Canonical Allele Identifier: PA2826591272
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25108
ClinVar RCV Id: RCV000022034 RCV001266891 RCV002271373 RCV003476902
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268653.2:p.Ala458Thr
CA278372
NM_001281724.3:c.1372G>A