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: PA2825031206

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1777748

ClinVar RCV Id: RCV003097095 RCV002405909

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Gly558Glu	CA382535130 NM_000051.4:c.1673G>A