Canonical Allele Identifier: PA2826590722
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25028
ClinVar RCV Id: RCV000021950 RCV000508413
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268653.2:p.Arg191Cys
CA278241
NM_001281724.3:c.571C>T