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: PA916032279

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 236692

ClinVar RCV Id: RCV000232136 RCV000479651 RCV000574247 RCV003238746 RCV002503882 RCV004547575

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Asp860Val	CA6265063 NM_001351834.2:c.2579A>T