Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2827302269

Gene: TPM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 454417

ClinVar RCV Id: RCV000544344 RCV000786233 RCV001193551

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317275.1:p.Val49Leu	CA392720623 NM_001330346.2:c.145G>C CA392720624 NM_001330346.2:c.145G>T