ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031573
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453348
ClinVar RCV Id:
RCV000551994
RCV003584639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Phe336Cys
CA228386405
NM_001351834.2:c.1007T>G