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: PA1139730633

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 987841

ClinVar RCV Id: RCV001269199 RCV001304784 RCV002436988 RCV003153970

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Tyr2791His	CA228364904 NM_001351834.2:c.8371T>C