ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031733
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
632656
ClinVar RCV Id:
RCV000779802
RCV001011140
RCV001054810
RCV001798977
RCV003472312
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr452Ala
CA382533782
NM_001351834.2:c.1354A>G