Canonical Allele Identifier: PA2827196014
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25089
ClinVar RCV Id: RCV000022014 RCV000484254
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Ala458Pro
CA278340
NM_001323582.1:c.1372G>C