ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032427
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
221187
ClinVar RCV Id:
RCV000206872
RCV000217962
RCV001030526
RCV001174579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Pro960His
CA350856
NM_001351834.2:c.2879C>A