Canonical Allele Identifier: PA2827195764
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 92400
ClinVar RCV Id: RCV000144058 RCV000507456 RCV003905037
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Arg189His
CA220329
NM_001323582.1:c.566G>A