Allele Registry

Canonical Allele Identifier: PA2827142126

Gene: ADA HGNC NCBI

ClinVar RCV:

RCV000002041

RCV000059114

ClinVar Variation:

1964

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308980.1:p.Pro250Leu	CA115283 NM_001322051.2:c.749C>T