Canonical Allele Identifier: PA916048565
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 444597
ClinVar RCV Id: RCV000513201 RCV002496976
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Val388Ala
CA351608347
NM_001370658.1:c.1163T>C