ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499305242
Gene: PORCN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_982301.1:p.Tyr334Cys
CA412848495
NM_203475.3:c.1001A>G