Canonical Allele Identifier: PA2827195691
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2096464
ClinVar RCV Id: RCV003028222
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Val118Phe
CA351605618
NM_001323582.1:c.352G>T
CA2580068515
NM_001323582.1:c.351_352delinsTT