ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA245582
Gene: PCNT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197441
ClinVar RCV Id:
RCV000178469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006022.3:p.Leu3049Pro
CA245581
NM_006031.5:c.9146T>C