ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573204100
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1463498
ClinVar RCV Id:
RCV001997723
RCV004044494
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gln446Arg
CA382533731
NM_001351834.2:c.1337A>G