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: PA2580204701

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1747626

ClinVar RCV Id: RCV002349678

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001338763.1:p.Gly1818Asp