ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645499139
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246292
ClinVar RCV Id:
RCV000235318
RCV000472191
RCV000563082
RCV000780895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile366Val
CA10584320
NM_000051.4:c.1096A>G