ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091214
Gene: ADA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1984
ClinVar RCV Id:
RCV000002061
RCV000059106
RCV001731272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000013.2:p.Arg156His
CA115299
NM_000022.3:c.467G>A