ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091205
Gene: ADA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
17006
ClinVar RCV:
RCV000002044
RCV000059112
RCV001280563
ClinVar Variation:
1967
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000013.2:p.Ala215Thr
CA115287
NM_000022.3:c.643G>A