ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916035127
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000166992
RCV000168377
RCV000519260
RCV002221505
RCV003483551
ClinVar Variation:
187275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338765.1:p.Met1Thr