ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503096
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236730
ClinVar RCV Id:
RCV000233443
RCV000481313
RCV000579553
RCV003469127
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1715Pro
CA6265633
NM_000051.4:c.5144T>C