ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139735341
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001181686
ClinVar Variation:
921931
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Lys827Thr
CA382543190
NM_001351834.2:c.2480A>C