ClinGen Allele Registry
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Canonical Allele Identifier:
PA916013694
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
194834
ClinVar RCV:
RCV000178773
RCV000764731
RCV002516781
ClinVar Variation:
197673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269606.1:p.Thr222Ile
CA245941
NM_001282677.2:c.665C>T