ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034127
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127430
ClinVar RCV Id:
RCV000120155
RCV000115235
RCV000586678
RCV000988720
RCV001354648
RCV003492465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu2307Phe
CA157162
NM_001351834.2:c.6919C>T