ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503691
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407515
ClinVar RCV Id:
RCV000473719
RCV003985356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gln2177Pro
CA16613415
NM_000051.4:c.6530A>C