Canonical Allele Identifier: PA2825030686
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1443133
ClinVar RCV Id: RCV001953341 RCV002386785
ClinVar Variation Id: 2774027
ClinVar RCV Id: RCV003585713
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Lys331Asn
CA382531288
NM_000051.4:c.993G>C
CA382531296
NM_000051.4:c.993G>T