Canonical Allele Identifier: PA658670776
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 481301
ClinVar RCV Id: RCV000564312 RCV001213681 RCV003229841 RCV003465195
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Lys2756Asn
CA382562702
NM_000051.4:c.8268G>C
CA382562703
NM_000051.4:c.8268G>T