ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825414219
Gene: POT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036059.1:p.Val388Ile
CA4465075
NM_001042594.2:c.1162G>A