ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673646
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000575478
RCV000627864
ClinVar Variation:
482748
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser377Cys
CA382532444
NM_000051.4:c.1130C>G