ClinGen Allele Registry
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Canonical Allele Identifier:
PA916033955
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
234272
ClinVar RCV:
RCV000220825
RCV000554683
RCV000587154
RCV003469006
RCV003483577
ClinVar Variation:
230532
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Cys2159Gly
CA6265955
NM_001351834.2:c.6475T>G