Canonical Allele Identifier: PA916048670
Gene: BTD HGNC NCBI
ClinVar Allele:
36380
ClinVar RCV:
RCV000021965
ClinVar Variation:
25043
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357681.1:p.Trp252Gly
CA278262
NM_001370752.1:c.754T>G