ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298155
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
180406
ClinVar RCV:
RCV000159688
RCV000820528
RCV001186648
ClinVar Variation:
181923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile671Val
CA298153
NM_000051.4:c.2011A>G