ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031859
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000458148
RCV000484925
RCV000561104
RCV002291630
ClinVar Variation:
407709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr554Met
CA16612997
NM_001351834.2:c.1661C>T