Canonical Allele Identifier: PA278257
Gene: BTD HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000051.1:p.Pro253Ser
CA278256
NM_000060.4:c.757C>T