ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741852017
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2615639
ClinVar RCV Id:
RCV003367547
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Ser867Cys
CA368164920
NM_001282678.2:c.2600C>G