Canonical Allele Identifier: PA2826589662
Gene: BTD HGNC NCBI
ClinVar Allele:
36351
ClinVar RCV:
RCV000021934
ClinVar Variation:
25014
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268652.2:p.Ala142Val
CA278217
NM_001281723.3:c.425C>T