ClinGen Allele Registry
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Canonical Allele Identifier:
PA916033066
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127388
ClinVar RCV Id:
RCV000120139
RCV000115193
RCV000122848
RCV000588436
RCV001356026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Phe1463Cys
CA151463
NM_001351834.2:c.4388T>G