ClinGen Allele Registry
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Canonical Allele Identifier:
PA916032278
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115159
RCV000534079
RCV000580576
RCV003460801
ClinVar Variation:
127354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asp860Asn
CA286766
NM_001351834.2:c.2578G>A