ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830481640
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_982299.1:p.Ser373Leu
CA16621413
NM_203473.3:c.1118C>T