ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915964297
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526537
ClinVar RCV Id:
RCV000631087
RCV003129951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Arg178Cys
CA8814888
NM_001079804.3:c.532C>T