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: PA1139760894

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 847578

ClinVar RCV Id: RCV003656285

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_932173.1:p.Lys1381Glu	CA352146760 NM_198056.3:c.4141A>G