ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580204818
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1720606
ClinVar RCV Id:
RCV002298324
RCV002346589
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser1893Leu
CA382547732
NM_001351834.2:c.5678C>T