ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645498535
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420008
ClinVar RCV Id:
RCV000482564
RCV000569534
RCV000806962
RCV003470549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly197Glu
CA6264634
NM_000051.4:c.590G>A