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: PA2828733424

Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 5676

ClinVar RCV Id: RCV000006030

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364888.1:p.Ser413Arg	CA253570 NM_001377959.1:c.1239C>A CA346502182 NM_001377959.1:c.1237A>C CA346502188 NM_001377959.1:c.1239C>G