ClinGen Allele Registry
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Canonical Allele Identifier:
PA916033039
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
132842
ClinVar RCV:
RCV000115190
RCV000168302
RCV000515173
RCV000586538
RCV000855627
RCV001257491
RCV001355810
RCV003149793
RCV003482131
RCV004549551
ClinVar Variation:
127385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Tyr1442His
CA286840
NM_001351834.2:c.4324T>C