Canonical Allele Identifier: PA2825339088
Gene: SC5D HGNC NCBI

Linked Data

ClinVar Variation Id: 916041
ClinVar RCV Id: RCV001171520

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001020127.1:p.Asp210Glu
CA383030081
NM_001024956.3:c.630C>A
CA383030087
NM_001024956.3:c.630C>G