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: PA645453755

Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 324510

ClinVar RCV Id: RCV000268020 RCV000298506 RCV000323138 RCV000353353 RCV001054673

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Gln1735His	CA8708818 NM_000334.4:c.5205G>C CA400613450 NM_000334.4:c.5205G>T