ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827628934
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000166918
RCV000576648
RCV004019993
RCV004440130
ClinVar Variation:
187213
3148226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Met1Leu