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: PA2827292820

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 130252

ClinVar RCV Id: RCV000118288 RCV000239702 RCV000416967 RCV000239630 RCV000467598 RCV002274920 RCV003992186

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Asn1877Ser	CA289040 NM_001330260.2:c.5630A>G