ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286704
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127327
ClinVar RCV Id:
RCV000115130
RCV000168399
RCV000656756
RCV000780894
RCV001762215
RCV001356891
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg337Cys
CA286702
NM_000051.4:c.1009C>T