Canonical Allele Identifier: PA196341
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 186957
ClinVar RCV Id: RCV000166626 RCV000205290 RCV003324726
ClinVar Variation Id: 482564
ClinVar RCV Id: RCV000569504
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Val1486Leu
CA196339
NM_000051.4:c.4456G>C
CA382533024
NM_000051.4:c.4456G>T