Canonical Allele Identifier: PA2827141937
Gene: ADA HGNC NCBI
ClinVar RCV:
RCV002047570
ClinVar Variation:
1352394
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308979.1:p.Met180Thr
CA9871459
NM_001322050.2:c.539T>C