Canonical Allele Identifier: PA2826592135
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 343912
ClinVar RCV Id: RCV000264378

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268654.1:p.Glu409Lys
CA2277449
NM_001281725.2:c.1225G>A