ClinGen Allele Registry
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Canonical Allele Identifier:
PA915964464
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498117
ClinVar RCV Id:
RCV000598383
RCV000631072
RCV001526979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Asn290Asp
CA8815078
NM_001079804.3:c.868A>G