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: PA2825033231

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1740107

ClinVar RCV Id: RCV002333526

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Gly1458Glu	CA382532101 NM_000051.4:c.4373G>A