ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573194076
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1427649
ClinVar RCV Id:
RCV001945968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269606.1:p.Gly410Glu
CA368196974
NM_001282677.2:c.1229G>A