Canonical Allele Identifier: PA2828448770
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 289700
ClinVar RCV Id: RCV000392405

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357681.1:p.His127Arg
CA10606520
NM_001370752.1:c.380A>G