ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673584
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482661
ClinVar RCV Id:
RCV000561901
RCV001238128
RCV002281114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly330Ala
CA6264715
NM_000051.4:c.989G>C