ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033620
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142535
ClinVar RCV Id:
RCV000131724
RCV000199373
RCV000587454
RCV003467183
RCV001705933
RCV004551266
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg1918Thr
CA168653
NM_001351834.2:c.5753G>C