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: PA2580203023

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1777748

ClinVar RCV Id: RCV003097095 RCV002405909

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Gly558Glu	CA382535130 NM_001351834.2:c.1673G>A