ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033579
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453594
ClinVar RCV Id:
RCV001181314
RCV000559863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr1884Ala
CA382546491
NM_001351834.2:c.5650A>G