ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033216
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181961
ClinVar RCV Id:
RCV000159728
RCV000196470
RCV000515177
RCV000589456
RCV001257475
RCV003321521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu1590Phe
CA298257
NM_001351834.2:c.4768C>T