ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673579
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453766
ClinVar RCV Id:
RCV000528412
RCV000708662
RCV003470689
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile326Val
CA382531103
NM_000051.4:c.976A>G