Canonical Allele Identifier: PA114234
Gene: GM2A HGNC NCBI
ClinVar RCV:
RCV000000421
ClinVar Variation:
390
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001161079.1:p.Cys138Arg
CA114233
NM_001167607.3:c.412T>C