ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825032344
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2921687
ClinVar RCV:
RCV003500226
ClinVar Variation:
2760507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn1062Thr
CA382515651
NM_000051.4:c.3185A>C