Canonical Allele Identifier: PA104740
Gene: GM2A HGNC NCBI
ClinVar RCV:
RCV000000422
ClinVar Variation:
391
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000396.2:p.Arg169Pro
CA114235
NM_000405.5:c.506G>C