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: PA1139702049

Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 878938

ClinVar RCV Id: RCV001105987

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Lys773Asn	CA381164659 NM_005609.4:c.2319A>T CA381164667 NM_005609.4:c.2319A>C