ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031847
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000227629
RCV001012386
RCV001589166
RCV003469121
ClinVar Variation:
236675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ala545Val
CA10582795
NM_001351834.2:c.1634C>T