ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032165
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181928
ClinVar RCV Id:
RCV000159693
RCV000254631
RCV000472551
RCV001704147
RCV001355809
RCV003149969
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ala799Val
CA298164
NM_001351834.2:c.2396C>T