ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031900
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181989
ClinVar RCV Id:
RCV000228653
RCV000218850
RCV000590682
RCV003467239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Tyr583Cys
CA298336
NM_001351834.2:c.1748A>G