ClinGen Allele Registry
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Canonical Allele Identifier:
PA091775
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
180494
ClinVar RCV:
RCV000159749
RCV000196419
RCV000212048
RCV000762827
RCV001255479
RCV002288675
ClinVar Variation:
181981
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg2227Cys
CA298317
NM_000051.4:c.6679C>T