ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032156
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000129623
RCV000227337
RCV003323408
RCV003467114
ClinVar Variation:
141217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Lys793Glu
CA164793
NM_001351834.2:c.2377A>G