Allele Registry

Canonical Allele Identifier: PA252203

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000002394

ClinVar Variation:

2304

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Leu396Pro	CA252202 NM_005609.4:c.1187T>C