Canonical Allele Identifier: PA197188
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 187265
ClinVar RCV Id: RCV000166982 RCV000235394 RCV000461205 RCV004552929
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Gly2508Arg
CA197186
NM_000051.4:c.7522G>A
CA382560645
NM_000051.4:c.7522G>C