Canonical Allele Identifier: PA2827195809
Gene: BTD HGNC NCBI
ClinVar Allele:
36377
ClinVar RCV:
RCV000021962
ClinVar Variation:
25040
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Ile235Thr
CA278258
NM_001323582.1:c.704T>C