ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033496
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231669
ClinVar RCV Id:
RCV000219062
RCV000485146
RCV000544430
RCV001818530
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr1819Ile
CA6265701
NM_001351834.2:c.5456C>T