Canonical Allele Identifier: PA645505652
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 407598
ClinVar RCV Id: RCV000467643 RCV003463883 RCV002374773 RCV003329282
ClinVar Variation Id: 478938
ClinVar RCV Id: RCV001312732 RCV000570075
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Phe3002Leu
CA16613196
NM_000051.4:c.9006C>A
CA382530890
NM_000051.4:c.9004T>C
CA382530924
NM_000051.4:c.9006C>G