ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116600
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4024
ClinVar RCV Id:
RCV000004239
RCV000169045
RCV001569366
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Arg725Trp
CA116598
NM_001079803.3:c.2173C>T