ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826666073
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1446912
ClinVar RCV Id:
RCV001987958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Pro1014Leu
CA4340759
NM_001282678.2:c.3041C>T