ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034783
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000459044
ClinVar Variation:
407586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Lys2810Glu
CA16613453
NM_001351834.2:c.8428A>G