Canonical Allele Identifier: PA2826592216
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 550861
ClinVar RCV Id: RCV000665732

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268654.1:p.Val437Leu
CA351608651
NM_001281725.2:c.1309G>C
CA351608653
NM_001281725.2:c.1309G>T