Canonical Allele Identifier: PA658670339
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 453685
ClinVar RCV Id: RCV000562572 RCV000779799 RCV000553049 RCV003470685 RCV003148773
ClinVar Variation Id: 629858
ClinVar RCV Id: RCV000774649
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Met2482Thr
CA382560318
NM_000051.4:c.7445T>C
CA913188485
NM_000051.4:c.7445_7446delinsCT