ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286713
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127330
ClinVar RCV Id:
RCV000477027
RCV000115134
RCV000561450
RCV003479006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser378Gly
CA286711
NM_000051.4:c.1132A>G