ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645500721
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000468658
RCV000571013
ClinVar Variation:
407700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu762Val
CA16613088
NM_000051.4:c.2284C>G