Canonical Allele Identifier: PA2826592433
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_001268655.2:p.Leu51Pro
CA278161
NM_001281726.2:c.152T>C