ClinGen Allele Registry
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Canonical Allele Identifier:
PA916034098
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
212900
ClinVar RCV:
RCV000200616
RCV000567702
RCV001582694
RCV003468901
ClinVar Variation:
216228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn2282Ser
CA339436
NM_001351834.2:c.6845A>G