Canonical Allele Identifier: PA916048661
Gene: BTD HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357681.1:p.Pro233Ser
CA278256
NM_001370752.1:c.697C>T