ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA287038
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127466
ClinVar RCV Id:
RCV000115272
RCV000212095
RCV000200530
RCV003330438
RCV001358118
RCV002271407
RCV003467036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Glu2990Lys
CA287036
NM_000051.4:c.8968G>A