Canonical Allele Identifier: PA2826591480
Gene: BTD HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268654.1:p.Leu63Ser
CA278175
NM_001281725.2:c.188T>C