Canonical Allele Identifier: PA246483
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 142147
ClinVar RCV Id: RCV000131002 RCV000199741 RCV000585658 RCV000656765 RCV001354297 RCV001357714 RCV000779783 RCV001798447 RCV003483503 RCV004551260
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Arg2854Cys
CA246481
NM_000051.4:c.8560C>T