Canonical Allele Identifier: PA2826591729
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25029
ClinVar RCV Id: RCV000021951 RCV000078077
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268654.1:p.Arg191His
CA220331
NM_001281725.2:c.572G>A