Canonical Allele Identifier: PA2827195642
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1905
ClinVar RCV Id: RCV000001982 RCV001815158
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Arg59Cys
CA278016
NM_001323582.1:c.175C>T