Canonical Allele Identifier: PA2826591044
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1715258
ClinVar RCV Id: RCV002301094
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268653.2:p.Gln356His
CA351608134
NM_001281724.3:c.1068G>C
CA351608135
NM_001281724.3:c.1068G>T