ClinGen Allele Registry
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Canonical Allele Identifier:
PA916035026
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_001338763.1:p.Glu2990Lys
CA287036
NM_001351834.2:c.8968G>A