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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:
CA1803867870
Gene: CFAP418
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.95247621T= , CM000670.2:g.95247621T=
GRCh38
NC_000008.10:g.96259849T= , CM000670.1:g.96259849T=
GRCh37
NC_000008.9:g.96329025T=
NCBI36
NG_032804.1:g.26614A=
Transcript Alleles
HGVS
Amino-acid change
ENST00000286688.6:c.620A=
MANE Select
ENSP00000286688.5:p.His207=
ENST00000286688.5:c.620A=
ENSP00000286688.5:p.His207=
NM_177965.3:c.620A=
NP_808880.1:p.His207=
XM_005250799.2:c.863A=
XP_005250856.2:p.His288=
NM_001363260.1:c.524A=
NP_001350189.1:p.His175=
NM_177965.4:c.620A=
MANE Select
NP_808880.1:p.His207=
Search 100 bp 5'
Search 100 bp 3'