ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825163224
Gene: GM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2201263
ClinVar RCV Id:
RCV002629568
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000396.2:p.Met69Ala
CA2580073924
NM_000405.5:c.205_206delinsGC