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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2419147525
Gene: PHEX
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.22032999C= , CM000685.2:g.22032999C=
GRCh38
NC_000023.10:g.22051117C= , CM000685.1:g.22051117C=
GRCh37
NC_000023.9:g.21961038C=
NCBI36
NG_007563.2:g.5197C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000475778.2:n.420C=
ENST00000683214.1:n.420C=
ENST00000684143.1:c.-7C=
ENSP00000508264.1:n.-7C=
ENST00000379374.5:c.-7C=
MANE Select
ENSP00000368682.4:n.-7C=
ENST00000379374.4:c.-7C=
ENSP00000368682.4:n.-7C=
NM_000444.5:c.-7C=
NP_000435.3:n.-7C=
NM_001282754.1:c.-7C=
NP_001269683.1:n.-7C=
XM_011545535.1:c.-7C=
XP_011543837.1:n.-7C=
XR_001755695.1:n.673C=
NM_000444.6:c.-7C=
MANE Select
NP_000435.3:n.-7C=
NM_001282754.2:c.-7C=
NP_001269683.1:n.-7C=
Search 100 bp 5'
Search 100 bp 3'