ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091787
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186276
ClinVar RCV Id:
RCV000165842
RCV000230822
RCV000659280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Glu2904Gly
CA194327
NM_000051.4:c.8711A>G