ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139670963
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
948944
ClinVar RCV Id:
RCV001220302
RCV003145408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Ser379Phe
CA294892234
NM_001079804.3:c.1136C>T