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: PA229104

Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 100839

ClinVar RCV Id: RCV000087201

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002462.2:p.Arg1679Leu	CA229102 NM_002471.4:c.5036G>T