ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825163202
Gene: GM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2530862
ClinVar RCV Id:
RCV003275585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000396.2:p.Ile58Thr
CA3517882
NM_000405.5:c.173T>C