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: PA916031572

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 481327

ClinVar RCV Id: RCV000562721

ClinVar Variation Id: 485229

ClinVar RCV Id: RCV000570204 RCV003767218

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Phe336Leu	CA382531392 NM_001351834.2:c.1006T>C CA382531405 NM_001351834.2:c.1008T>A CA382531408 NM_001351834.2:c.1008T>G