ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091773
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000032965
RCV000166627
RCV000258124
RCV000762825
RCV001268054
RCV001356731
RCV001762078
RCV003492323
ClinVar Variation:
39749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala2067Asp
CA130514
NM_000051.4:c.6200C>A