ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830481584
Gene: PORCN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_982299.1:p.Leu256Pro
CA412846398
NM_203473.3:c.767T>C