ClinGen Allele Registry
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Canonical Allele Identifier:
PA916032375
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
132815
ClinVar RCV:
RCV000115163
RCV000232085
RCV000590158
RCV000763692
RCV001549271
RCV002288589
ClinVar Variation:
127358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg924Trp
CA286776
NM_001351834.2:c.2770C>T