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: PA2825320059

Gene: TPM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12456

ClinVar RCV Id: RCV000036340 RCV000159366 RCV000474684 RCV000622165 RCV001197088 RCV001170568 RCV000013272

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001018004.1:p.Asp175Asn	CA018106 NM_001018004.2:c.523G>A