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: PA271002

Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 157780

ClinVar RCV Id: RCV000145082 RCV001312116 RCV002514787

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060606.3:p.Ser463Asn	CA271001 NM_018136.5:c.1388G>A