Canonical Allele Identifier: PA334434
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 188246
ClinVar RCV Id: RCV000168203 RCV001524135
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Ser2078Phe
CA334432
NM_000051.4:c.6233C>T