ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031884
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181920
ClinVar RCV Id:
RCV000159685
RCV000196810
RCV000590025
RCV003230420
RCV003462071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile576Thr
CA298144
NM_001351834.2:c.1727T>C