Canonical Allele Identifier: PA2827195714
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25012
ClinVar RCV Id: RCV000021931 RCV000414201
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Arg137Cys
CA278215
NM_001323582.1:c.409C>T