ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825460079
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
842132
ClinVar RCV Id:
RCV001044499
RCV001759959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Arg168Trp
CA8814882
NM_001079803.3:c.502C>T