ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032299
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186608
ClinVar RCV Id:
RCV000166230
RCV000225924
RCV000487118
RCV001844060
RCV003153451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ala869Val
CA195312
NM_001351834.2:c.2606C>T