ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139671008
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
849979
ClinVar RCV Id:
RCV001054048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Ala382Thr
CA401365040
NM_001079804.3:c.1144G>A