ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658660579
Gene: POT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
475082
ClinVar RCV Id:
RCV000543907
RCV001755900
RCV002456249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056265.2:p.Arg117Cys
CA4465453
NM_015450.2:c.349C>T