ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA196570
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187037
ClinVar RCV Id:
RCV000166722
RCV000255700
RCV000509266
RCV000541770
RCV002247573
RCV001175362
RCV001535786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Cys2488Tyr
CA196568
NM_000051.4:c.7463G>A