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: PA2830511614

Gene: MYBPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 29801

ClinVar RCV Id: RCV000022671

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_996557.1:p.Tyr831His	CA128658 NM_206821.3:c.2491T>C