ClinGen Allele Registry
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Canonical Allele Identifier:
PA185965
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
139499
ClinVar RCV:
RCV000122894
RCV000159668
RCV000200970
RCV000780903
RCV001030606
RCV001356215
RCV001798400
ClinVar Variation:
135787
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Pro2974Leu
CA185963
NM_000051.4:c.8921C>T