Canonical Allele Identifier: PA2827195953
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25071
ClinVar RCV Id: RCV000021996

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Cys398Ser
CA278309
NM_001323582.1:c.1193G>C
CA351608402
NM_001323582.1:c.1192T>A