Canonical Allele Identifier: PA916032186
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 133608
ClinVar RCV Id: RCV000120124 RCV000159695 RCV000168026 RCV001250428 RCV001356154 RCV000656758 RCV004551177
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Asp817His
CA157079
NM_001351834.2:c.2449G>C