ClinGen Allele Registry
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Canonical Allele Identifier:
PA658669660
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000572229
RCV001208305
RCV003227795
RCV003459340
ClinVar Variation:
482572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.His1895Asn
CA382547751
NM_000051.4:c.5683C>A