ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826665326
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000078930
RCV001246411
ClinVar Variation:
93114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Ile17Asn
CA220984
NM_001282678.2:c.50T>A