ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139730084
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
938483
ClinVar RCV Id:
RCV001207707
RCV002418698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Pro2699Leu
CA382562092
NM_001351834.2:c.8096C>T