Canonical Allele Identifier: PA2827195876
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2159814
ClinVar RCV Id: RCV003073016

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Ser310Arg
CA2277402
NM_001323582.1:c.928A>C
CA351607659
NM_001323582.1:c.930T>A
CA351607660
NM_001323582.1:c.930T>G