ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826665044
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1483349
ClinVar RCV Id:
RCV001998732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269606.1:p.Ala864Thr
CA368170957
NM_001282677.2:c.2590G>A