ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034646
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142700
ClinVar RCV Id:
RCV000132066
RCV000169105
RCV000212079
RCV000709709
RCV001640164
RCV002285144
RCV003128150
RCV003492629
RCV004551268
RCV003318553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val2716Ala
CA294465
NM_001351834.2:c.8147T>C