Canonical Allele Identifier: PA2826591585
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 373539
ClinVar RCV Id: RCV000414058 RCV000675064
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268654.1:p.Arg128Cys
CA2277309
NM_001281725.2:c.382C>T