Canonical Allele Identifier: PA2826590356
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 203642
ClinVar RCV Id: RCV000409281 RCV000623390
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268652.2:p.Arg518Ser
CA312375
NM_001281723.3:c.1552C>A