ClinGen Allele Registry
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Canonical Allele Identifier:
PA916033567
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181968
ClinVar RCV Id:
RCV000159735
RCV000567744
RCV000472045
RCV001357645
RCV003338433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Phe1877Ser
CA298278
NM_001351834.2:c.5630T>C