Canonical Allele Identifier: PA2826590617
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 571821
ClinVar RCV Id: RCV000693060

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268653.2:p.Cys140Phe
CA2277336
NM_001281724.3:c.419G>T