ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915964739
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286469
ClinVar RCV Id:
RCV000295145
RCV000702676
RCV004017586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Thr614Met
CA8815496
NM_001079804.3:c.1841C>T