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: PA2580420907

Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 1939954

ClinVar RCV Id: RCV002658164

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060606.3:p.Lys639del	CA1310628 NM_018136.5:c.1914_1916del CA344012822 NM_018136.5:c.1915A>T CA344012849 NM_018136.5:c.1912A>T CA344012863 NM_018136.5:c.1909A>T