ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032016
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181923
ClinVar RCV Id:
RCV000159688
RCV000820528
RCV001186648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile671Val
CA298153
NM_001351834.2:c.2011A>G