Allele Registry

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.

Canonical Allele Identifier: PA100250

Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 7946

ClinVar RCV Id: RCV000008409 RCV001843349

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000252.1:p.Tyr437His	CA119169 NM_000261.2:c.1309T>C