ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825913097
Gene: POC1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1518740
ClinVar RCV Id:
RCV002043542
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155053.1:p.Leu289Pro
CA2429444
NM_001161581.2:c.866T>C