Canonical Allele Identifier: PA2827195637
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 38482
ClinVar RCV Id: RCV000021900 RCV000427971
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Leu51Pro
CA278161
NM_001323582.1:c.152T>C