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: PA180616

Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177687

ClinVar RCV Id: RCV000154286

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000248.2:p.Ile248Thr	CA016766 NM_000257.4:c.743T>C