ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032080
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181924
ClinVar RCV Id:
RCV000159689
RCV000205354
RCV000211974
RCV001030522
RCV001174912
RCV004551371
RCV001798544
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg720His
CA298156
NM_001351834.2:c.2159G>A