Canonical Allele Identifier: PA2828448648
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1905
ClinVar RCV Id: RCV000001982 RCV001815158
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357681.1:p.Arg59Cys
CA082670
NM_001370752.1:c.[175C>T;1015+286A>C]
CA278016
NM_001370752.1:c.175C>T