ClinGen Allele Registry
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Canonical Allele Identifier:
PA157137
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000120145
RCV000122859
RCV000128902
RCV000513231
RCV001262813
RCV001358294
RCV001798378
RCV002225361
RCV003224156
ClinVar Variation:
133623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp1853Val
CA157135
NM_000051.4:c.5558A>T