ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032246
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000566965
RCV000697660
ClinVar Variation:
485164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu846Val
CA382543586
NM_001351834.2:c.2536C>G