Canonical Allele Identifier: PA2826592476
Gene: BTD HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268655.2:p.Tyr73Cys
CA278179
NM_001281726.2:c.218A>G