ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573266977
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_056241.3:p.Leu327Pro
CA2429444
NM_015426.5:c.980T>C