ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034425
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141579
ClinVar RCV Id:
RCV000130162
RCV000167957
RCV000236319
RCV000779778
RCV001798442
RCV003474759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val2540Ile
CA165843
NM_001351834.2:c.7618G>A