Canonical Allele Identifier: PA2828449258
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 38487
ClinVar RCV Id: RCV000021895

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357682.1:p.Val42Met
CA278152
NM_001370753.1:c.124G>A