ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580396397
Gene: POT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1769249
ClinVar RCV Id:
RCV002380687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056265.2:p.Tyr342Cys
CA369068601
NM_015450.2:c.1025A>G