ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112919
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189172
ClinVar RCV Id:
RCV000169600
RCV000256037
RCV003895169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Arg660His
CA274455
NM_000152.5:c.1979G>A