ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645504340
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246331
ClinVar RCV Id:
RCV000235760
RCV000562391
RCV000706089
RCV003993907
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Pro2699Arg
CA10584370
NM_000051.4:c.8096C>G