ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915964721
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194154
ClinVar RCV Id:
RCV000174449
RCV001242470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Ser601Leu
CA274982
NM_001079804.3:c.1802C>T