Canonical Allele Identifier: PA2741957034
Gene: SBDS HGNC NCBI

Linked Data

ClinVar Variation Id: 2543766
ClinVar RCV Id: RCV003267372

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_057122.2:p.Lys166Asn
CA367646910
NM_016038.2:c.498G>T
CA367646914
NM_016038.2:c.498G>C