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: PA2826287493

Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 21572

ClinVar RCV Id: RCV000020762

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001193775.1:p.Gly1028Arg	CA342237 NM_001206846.2:c.3082G>A CA344044625 NM_001206846.2:c.3082G>C