ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139727621
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
938985
ClinVar RCV Id:
RCV001208303
RCV002375150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ala2296Thr
CA382556850
NM_001351834.2:c.6886G>A