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: PA2573202537

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1449085

ClinVar RCV Id: RCV002012313

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Gly1458Arg	CA382532094 NM_001351834.2:c.4372G>A CA382532096 NM_001351834.2:c.4372G>C