Canonical Allele Identifier: PA645502728
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 232191
ClinVar RCV Id: RCV000215942 RCV000486909 RCV000473821 RCV003491980 RCV003462488
ClinVar Variation Id: 453508
ClinVar RCV Id: RCV000552264
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Thr1399Ser
CA10579137
NM_000051.4:c.4196C>G
CA382530327
NM_000051.4:c.4195A>T