ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915964727
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000277163
RCV000554270
ClinVar Variation:
290266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Arg608Gln
CA8815489
NM_001079804.3:c.1823G>A