Canonical Allele Identifier: PA2827196033
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25094
ClinVar RCV Id: RCV000022019 RCV000078068
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Pro477Ser
CA220317
NM_001323582.1:c.1429C>T