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: PA916031871

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 185802

ClinVar RCV Id: RCV000165292 RCV000466714

ClinVar Variation Id: 864266

ClinVar RCV Id: RCV001071406 RCV002402486 RCV004526079

ClinVar Variation Id: 1172872

ClinVar RCV Id: RCV001526962 RCV002414249 RCV002568855

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Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001338763.1:p.Met563Ile