Canonical Allele Identifier: PA2827195826
Gene: BTD HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Trp252Gly
CA278262
NM_001323582.1:c.754T>G