Canonical Allele Identifier: PA2826002241
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2435311
ClinVar RCV Id: RCV003130365

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158188.1:p.Phe621Leu
CA381167606
NM_001164716.1:c.1863C>G
CA381167608
NM_001164716.1:c.1863C>A
CA381167618
NM_001164716.1:c.1861T>C