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: PA2825031892

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1686475

ClinVar RCV Id: RCV002246988 RCV003094049

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser865Arg	CA382544038 NM_000051.4:c.2593A>C CA382544063 NM_000051.4:c.2595T>A CA382544065 NM_000051.4:c.2595T>G