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: PA2573170360

Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1409985

ClinVar RCV Id: RCV001916197

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000445.1:p.Leu107_Ser108del	CA2573157383 NM_000454.5:c.319_324del