Canonical Allele Identifier: PA294441
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 142541
ClinVar RCV Id: RCV000131731 RCV000212067 RCV000206694 RCV000764944 RCV001375519 RCV001535788 RCV003462021 RCV004551267
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Arg2461Cys
CA294439
NM_000051.4:c.7381C>T