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: PA2825031878

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 649361

ClinVar RCV Id: RCV000804279 RCV001805872

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Tyr861Asn	CA382543952 NM_000051.4:c.2581T>A