ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826664686
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285000
ClinVar RCV Id:
RCV000306324
RCV000889675
RCV001355075
RCV001420972
RCV003977775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269606.1:p.Leu213Phe
CA4341565
NM_001282677.2:c.637C>T