ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825182562
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001891383
ClinVar Variation:
1395444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Val73Ala
CA368204886
NM_000466.3:c.218T>C