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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:
CA346944543
Gene: PEX13
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.61259170T>C (hg19)
chr2:g.61032035T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.61032035T>C , CM000664.2:g.61032035T>C
GRCh38
NC_000002.11:g.61259170T>C , CM000664.1:g.61259170T>C
GRCh37
NC_000002.10:g.61112674T>C
NCBI36
NG_008665.1:g.19359T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000295030.6:c.709T>C
MANE Select
ENSP00000295030.4:p.Phe237Leu
ENST00000295030.5:c.709T>C
ENSP00000295030.4:p.Phe237Leu
NM_002618.3:c.709T>C
NP_002609.1:p.Phe237Leu
XM_011532904.1:c.592T>C
XP_011531206.1:p.Phe198Leu
NM_002618.4:c.709T>C
MANE Select
NP_002609.1:p.Phe237Leu
Search 100 bp 5'
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