ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915964901
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252467
ClinVar RCV Id:
RCV000238987
RCV000542072
RCV000725668
RCV004020975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Thr806Met
CA8815734
NM_001079804.3:c.2417C>T