Canonical Allele Identifier: PA2826592155
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2203319
ClinVar RCV Id: RCV002651649

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268654.1:p.Tyr418Cys
CA278324
NM_001281725.2:c.1253A>G