ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827629859
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004521102
ClinVar Variation:
3232422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile826Phe
CA382543163
NM_001351834.2:c.2476A>T