ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034870
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000166084
RCV000168218
RCV002272149
RCV003316050
ClinVar Variation:
186482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu2866Val
CA194948
NM_001351834.2:c.8596C>G