Canonical Allele Identifier: PA104747
Gene: GM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 390
ClinVar RCV Id: RCV000000421
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000396.2:p.Cys138Arg
CA114233
NM_000405.5:c.412T>C