ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA196195
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186904
ClinVar RCV Id:
RCV000166564
RCV000205986
RCV000235284
RCV000764942
RCV001358721
RCV003468787
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn2412Ser
CA196193
NM_000051.4:c.7235A>G