Canonical Allele Identifier: PA2825034534
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 2993095
ClinVar RCV Id: RCV003850190
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Tyr2049His
CA382550545
NM_000051.4:c.6145T>C