ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA204422
Gene: EPX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208340
ClinVar RCV Id:
RCV000190420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000493.1:p.Asp648Asn
CA204421
NM_000502.5:c.1942G>A