ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825461525
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497673
ClinVar RCV Id:
RCV000597199
RCV000698293
RCV003323624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Asp459His
CA294893978
NM_001079803.3:c.1375G>C