Allele Registry

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Canonical Allele Identifier: PA916033936

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 135771

ClinVar RCV Id: RCV000236625 RCV000122875 RCV000574605 RCV003460866

ClinVar Variation Id: 489571

ClinVar RCV Id: RCV000580061 RCV000806982 RCV003153751

ClinVar Variation Id: 1466839

ClinVar RCV Id: RCV001990620

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Phe2140Leu	CA332348 NM_001351834.2:c.6420C>A CA15067465 NM_001351834.2:c.6418T>C CA382553490 NM_001351834.2:c.6420C>G