ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915964360
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92488
ClinVar RCV Id:
RCV000078185
RCV000169616
RCV000675218
RCV002362723
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Arg223His
CA145791
NM_001079804.3:c.668G>A