Canonical Allele Identifier: PA2826590056
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 343910
ClinVar RCV Id: RCV000299326
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268652.2:p.Pro371Leu
CA2277434
NM_001281723.3:c.1112C>T