ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658744732
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000583313
RCV003465304
ClinVar Variation:
490685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu2338Pro
CA382558722
NM_000051.4:c.7013T>C