ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580203420
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003057053
ClinVar Variation:
2124223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn859Asp
CA382543887
NM_001351834.2:c.2575A>G