ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503676
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231452
ClinVar RCV Id:
RCV000213307
RCV000791592
RCV002225521
RCV003462463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg2138Gly
CA6265932
NM_000051.4:c.6412A>G