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: PA2573170364

Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1495024

ClinVar RCV Id: RCV002015151

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000445.1:p.Gly109del	CA410037544 NM_000454.5:c.325G>T CA2573157384 NM_000454.5:c.326_328del