Canonical Allele Identifier: PA2827195986
Gene: BTD HGNC NCBI
ClinVar Allele:
36417
ClinVar RCV:
RCV000022008
ClinVar Variation:
25083
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.His427Tyr
CA278332
NM_001323582.1:c.1279C>T