ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA255496
Gene: PORCN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_982299.1:p.Trp74Ter
NM_203473.3:c.221G>A
NM_203473.3:c.222G>A