Canonical Allele Identifier: PA220318
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_000051.1:p.Pro497Ser
CA220317
NM_000060.4:c.1489C>T