ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669648
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000559863
RCV001181314
ClinVar Variation:
453594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr1884Ala
CA382546491
NM_000051.4:c.5650A>G