ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670183
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000574066
RCV001217694
ClinVar Variation:
478945
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val2367Leu
CA382559394
NM_000051.4:c.7099G>C