ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032625
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
823530
ClinVar RCV Id:
RCV001019843
RCV002549510
RCV003461383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asp1103Ala
CA382517387
NM_001351834.2:c.3308A>C