ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032646
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181948
ClinVar RCV Id:
RCV000159715
RCV000211998
RCV000335065
RCV003226222
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr1118Ala
CA298222
NM_001351834.2:c.3352A>G