ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826665991
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284663
ClinVar RCV Id:
RCV000350916
RCV001277300
RCV002480020
RCV003165737
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Ala828Ser
CA4340902
NM_001282678.2:c.2482G>T