ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503741
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421478
ClinVar RCV Id:
RCV000485190
RCV000560466
RCV001025791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Lys2303Met
CA16619222
NM_000051.4:c.6908A>T