ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826665530
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2188352
ClinVar RCV Id:
RCV002620164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Asn313Ser
CA4341375
NM_001282678.2:c.938A>G