ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057455189
Gene: PEX2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005041421
ClinVar Variation:
3595883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165558.2:p.Cys184His
CA658797117
NM_001172087.2:c.550_551delinsCA