Canonical Allele Identifier: PA2827195799
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25037
ClinVar RCV Id: RCV000021960 RCV001284605 RCV002228053
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Ile228Thr
CA278254
NM_001323582.1:c.683T>C