ClinGen Allele Registry
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Canonical Allele Identifier:
PA916032022
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232113
ClinVar RCV Id:
RCV000215407
RCV000467380
RCV000763689
RCV003231407
RCV001778808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gly679Val
CA6264919
NM_001351834.2:c.2036G>T