ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645504452
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
398364
ClinVar RCV:
RCV000463539
ClinVar Variation:
407703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly2718Ser
CA16613449
NM_000051.4:c.8152G>A