ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112883
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
972747
ClinVar RCV Id:
RCV001248866
RCV001876297
RCV003142223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Arg594His
CA8815477
NM_000152.5:c.1781G>A