ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113748
Gene: ADA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000106386
RCV001781437
ClinVar Variation:
120305
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269154.1:p.Pro251Leu
CA150812
NM_001282225.2:c.752C>T