Canonical Allele Identifier: PA2826590716
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 458809
ClinVar RCV Id: RCV000537387 RCV001591206 RCV001778993 RCV002527692
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268653.2:p.Arg189Cys
CA2277351
NM_001281724.3:c.565C>T