ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826665170
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
494120
ClinVar RCV:
RCV000597351
RCV002272300
RCV002476342
RCV002532681
ClinVar Variation:
502697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269606.1:p.Asp1038Asn
CA4340856
NM_001282677.2:c.3112G>A