Canonical Allele Identifier: PA1139714252
Gene: SC5D HGNC NCBI

Linked Data

ClinVar Variation Id: 916041
ClinVar RCV Id: RCV001171520
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008849.2:p.Asp210Glu
CA383030081
NM_006918.5:c.630C>A
CA383030087
NM_006918.5:c.630C>G