Canonical Allele Identifier: PA2828446030
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 439039
ClinVar RCV Id: RCV000508475 RCV000715008
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Ala279Pro
CA351607446
NM_001370658.1:c.835G>C