ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573194132
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002044739
ClinVar Variation:
1351456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269606.1:p.Ala611Val
CA368185219
NM_001282677.2:c.1832C>T