ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826602266
Gene: PORCN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421875
ClinVar RCV Id:
RCV000486452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269096.1:p.Ser296Leu
CA16621413
NM_001282167.2:c.887C>T