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: PA645432595

Gene: SCN11A HGNC NCBI

Linked Data

ClinVar Variation Id: 157600

ClinVar RCV Id: RCV000144935 RCV001808403 RCV002512564 RCV002460046

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_054858.2:p.Ile381Thr	CA171014 NM_014139.3:c.1142T>C