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: PA1139730562

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 956933

ClinVar RCV Id: RCV001229826 RCV004032681

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Val2774Ala	CA228364814 NM_001351834.2:c.8321T>C