ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803612
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502697
ClinVar RCV Id:
RCV000597351
RCV002272300
RCV002476342
RCV002532681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Asp1095Asn
CA4340856
NM_000466.3:c.3283G>A