ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827141943
Gene: ADA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1959
ClinVar RCV Id:
RCV000002036
RCV000373062
RCV001194143
RCV003944791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308979.1:p.Ala194Val
CA252004
NM_001322050.2:c.581C>T