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: PA110853

Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 695024

ClinVar RCV Id: RCV000857231 RCV001858533

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000445.1:p.Ser106Leu	CA410037531 NM_000454.5:c.317C>T