Canonical Allele Identifier: PA278218
Gene: BTD HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000051.1:p.Ala162Val
CA278217
NM_000060.4:c.485C>T