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: PA2580203382

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 2119728

ClinVar RCV Id: RCV003033240

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ala799_Phe803delinsVal	CA2580083361 NM_001351834.2:c.2396_2407del