Allele Registry

Canonical Allele Identifier: PA239270

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000675637

RCV001079321

RCV003937552

ClinVar Variation:

193681

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Asn413Tyr	CA239269 NM_005609.4:c.1237A>T