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: PA2830401438

Gene: SYNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448612

ClinVar RCV Id: RCV000516308

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_892006.3:p.Lys2553Glu	CA4057761 NM_182961.4:c.7657A>G