ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499250979
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1049347
ClinVar RCV Id:
RCV001355347
RCV002413839
RCV003605757
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile2629Val
CA382561443
NM_001351834.2:c.7885A>G