ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499240954
Gene: PEX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1016098
ClinVar RCV Id:
RCV001315053
RCV001830287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165558.2:p.Ile104Met
CA371557621
NM_001172087.2:c.312C>G