ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032918
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
489544
ClinVar RCV Id:
RCV000580438
RCV003233751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Pro1341Leu
CA382527654
NM_001351834.2:c.4022C>T