ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915990013
Gene: GM2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000153332
RCV000376352
RCV000675621
ClinVar Variation:
167150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161079.1:p.Ile59Val
CA180085
NM_001167607.3:c.175A>G