Canonical Allele Identifier: PA2826590550
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2096464
ClinVar RCV Id: RCV003028222
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268653.2:p.Val118Phe
CA351605618
NM_001281724.3:c.352G>T
CA2580068515
NM_001281724.3:c.351_352delinsTT