ClinGen Allele Registry
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Canonical Allele Identifier:
PA915964813
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285821
ClinVar RCV Id:
RCV000264524
RCV000364773
RCV002307478
RCV003391044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Pro684Leu
CA8815599
NM_001079804.3:c.2051C>T