Canonical Allele Identifier: PA2580103033
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2439582
ClinVar RCV Id: RCV003143833

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000051.1:p.Glu507Lys
CA2277488
NM_000060.4:c.1519G>A