ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645497401
Gene: PORCN
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_982301.1:p.Phe417Ser
NM_203475.3:c.1250T>C