ClinGen Allele Registry
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Canonical Allele Identifier:
PA915964486
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456444
ClinVar RCV Id:
RCV000560890
RCV001584243
RCV002377004
RCV002252158
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.His308Tyr
CA8815089
NM_001079804.3:c.922C>T