ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826665887
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288721
ClinVar RCV Id:
RCV000301612
RCV000764729
RCV001855212
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Ala709Val
CA4341025
NM_001282678.2:c.2126C>T