ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057317456
Gene: PEX2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004731477
ClinVar Variation:
3347933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165558.2:p.Val213Leu
CA371556908
NM_001172087.2:c.637G>C