ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825034932
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
826547
ClinVar RCV Id:
RCV001025520
RCV001243705
RCV003315445
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Met2224_Arg2227delinsIleSer
CA915947667
NM_000051.4:c.6672_6680delinsCTC