ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580189108
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1985426
ClinVar RCV Id:
RCV002780739
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269606.1:p.Glu127Lys
CA368202552
NM_001282677.2:c.379G>A