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: PA2826287350

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_001193775.1:p.Lys639del	CA1310628 NM_001206846.2:c.1914_1916del CA344012822 NM_001206846.2:c.1915A>T CA344012849 NM_001206846.2:c.1912A>T CA344012863 NM_001206846.2:c.1909A>T