ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032347
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000562509
RCV000628118
RCV000679106
RCV003321672
ClinVar Variation:
479053
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu906Met
CA382545292
NM_001351834.2:c.2716T>A