ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA334195
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000168047
RCV000217445
RCV000235357
RCV003468822
ClinVar Variation:
188157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg45Gln
CA334193
NM_000051.4:c.134G>A