ClinGen Allele Registry
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Canonical Allele Identifier:
PA151465
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
132845
ClinVar RCV:
RCV000115193
RCV000120139
RCV000122848
RCV000588436
RCV001356026
ClinVar Variation:
127388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Phe1463Cys
CA151463
NM_000051.4:c.4388T>G