ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580189297
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2382651
ClinVar RCV Id:
RCV002684711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Ser867Tyr
CA4340866
NM_001282678.2:c.2600C>A