ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825462080
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
493217
ClinVar RCV:
RCV000597451
RCV001199859
ClinVar Variation:
501793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Ser601Trp
CA294896338
NM_001079803.3:c.1802C>G