ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA334065
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188110
ClinVar RCV Id:
RCV000167964
RCV000481289
RCV000219840
RCV003338436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser310Gly
CA334063
NM_000051.4:c.928A>G