ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA197814
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187503
ClinVar RCV Id:
RCV000167238
RCV001212030
RCV003153456
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Met1484Thr
CA197812
NM_000051.4:c.4451T>C