Canonical Allele Identifier: PA286943
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127427
ClinVar RCV Id: RCV000115232 RCV000464353
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Ile2275Leu
CA286941
NM_000051.4:c.6823A>C
CA382556509
NM_000051.4:c.6823A>T