Canonical Allele Identifier: PA2825339099
Gene: SC5D HGNC NCBI

Linked Data

ClinVar Variation Id: 2071013
ClinVar RCV Id: RCV002971589

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001020127.1:p.Asp237Glu
CA6328221
NM_001024956.3:c.711C>G
CA383030444
NM_001024956.3:c.711C>A