ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825035387
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
837862
ClinVar RCV:
RCV001056386
ClinVar Variation:
851883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val2424Glu
CA382559768
NM_000051.4:c.7271T>A