Canonical Allele Identifier: PA2826592113
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25069
ClinVar RCV Id: RCV000021994

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268654.1:p.Cys398Arg
CA278305
NM_001281725.2:c.1192T>C