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: PA916034061

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 407559

ClinVar RCV Id: RCV000474857 RCV000583932 RCV003323546

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Lys2253Asn	CA16613416 NM_001351834.2:c.6759A>C CA382555329 NM_001351834.2:c.6759A>T