ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825036058
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001362560
RCV001820061
RCV002420793
ClinVar Variation:
1054111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp2721Asn
CA382562473
NM_000051.4:c.8161G>A