ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669944
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
478959
ClinVar RCV Id:
RCV000571659
RCV000797659
RCV003459269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Pro2093Ser
CA228403260
NM_000051.4:c.6277C>T