Canonical Allele Identifier: PA2826590827
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1952338
ClinVar RCV Id: RCV002676902

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268653.2:p.Asp240Ala
CA2277375
NM_001281724.3:c.719A>C