Canonical Allele Identifier: PA2827195952
Gene: BTD HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Cys398Arg
CA278305
NM_001323582.1:c.1192T>C