ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481921
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286435
ClinVar RCV Id:
RCV000631086
RCV000675240
RCV001375522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Ala719Ser
CA8815628
NM_000152.5:c.2155G>T