ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031341
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000456186
RCV000575164
RCV000991561
RCV002281972
ClinVar Variation:
181909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg173Met
CA298111
NM_001351834.2:c.518G>T