Canonical Allele Identifier: PA157164
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127430
ClinVar RCV Id: RCV000120155 RCV000115235 RCV000586678 RCV000988720 RCV001354648 RCV003492465
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Leu2307Phe
CA157162
NM_000051.4:c.6919C>T