ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091777
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
490737
ClinVar RCV Id:
RCV000582030
RCV000805253
RCV002221560
RCV002280130
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg2849Pro
CA382518439
NM_000051.4:c.8546G>C