ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031799
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220272
ClinVar RCV Id:
RCV000218923
RCV000205555
RCV001778794
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn504Ser
CA349700
NM_001351834.2:c.1511A>G