ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825460341
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000078185
RCV000169616
RCV000675218
RCV002362723
ClinVar Variation:
92488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Arg223His
CA145791
NM_001079803.3:c.668G>A