ClinGen Allele Registry
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Canonical Allele Identifier:
PA915964315
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92486
ClinVar RCV Id:
RCV000078183
RCV000275148
RCV000675217
RCV002354274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.His199Arg
CA145785
NM_001079804.3:c.596A>G