Canonical Allele Identifier: PA2826200273
Gene: APTX HGNC NCBI

Linked Data

ClinVar Variation Id: 2321145
ClinVar RCV Id: RCV002893652

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182181.2:p.Val116Leu
CA373177766
NM_001195252.2:c.346G>C
CA373177768
NM_001195252.2:c.346G>T