ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916019818
Gene: PTEN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000131280
RCV000178758
RCV000549505
ClinVar Variation:
142261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291646.4:p.Cys278Tyr
CA000393
NM_001304717.5:c.833G>A