ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032202
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000471039
RCV000775700
RCV003470430
RCV003479123
ClinVar Variation:
407643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Phe825Cys
CA16613284
NM_001351834.2:c.2474T>G