ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA339438
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000200616
RCV000567702
RCV001582694
RCV003468901
ClinVar Variation:
216228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn2282Ser
CA339436
NM_000051.4:c.6845A>G