ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034641
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448987
ClinVar RCV Id:
RCV000819092
RCV000522072
RCV000567578
RCV003470645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg2713Thr
CA382562221
NM_001351834.2:c.8138G>C