ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741952640
Gene: POT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056265.2:p.Ile423Val
CA369067273
NM_015450.2:c.1267A>G