Canonical Allele Identifier: PA2827195673
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 801134
ClinVar RCV Id: RCV000985645 RCV003769290
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Val89Leu
CA2277295
NM_001323582.1:c.265G>C
CA351605074
NM_001323582.1:c.265G>T