ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033519
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407569
ClinVar RCV Id:
RCV000467984
RCV002289609
RCV001024226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Pro1843Ala
CA16613376
NM_001351834.2:c.5527C>G