ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139670793
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
864108
ClinVar RCV Id:
RCV001071217
RCV001568545
RCV003155354
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Arg281Gln
CA8815026
NM_001079804.3:c.842G>A