ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830481697
Gene: PORCN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1663393
ClinVar RCV Id:
RCV002188485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_982300.1:p.Val57Met
CA10402706
NM_203474.1:c.169G>A