Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2825536747

Gene: SGCE HGNC NCBI

Linked Data

ClinVar Variation Id: 5773

ClinVar RCV Id: RCV000006129

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092871.1:p.Leu196Arg	CA253601 NM_001099401.2:c.587T>G