ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032890
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000159720
RCV000573270
RCV000703729
RCV001357834
ClinVar Variation:
181953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Met1321Val
CA298235
NM_001351834.2:c.3961A>G