Canonical Allele Identifier: PA915992869
Gene: PGM1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166289.1:p.Leu534Pro
CA156390
NM_001172818.1:c.1601T>C