ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916013743
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360927
ClinVar RCV Id:
RCV000348562
RCV000598077
RCV001507172
RCV003932488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269606.1:p.Val481Ile
CA4341401
NM_001282677.2:c.1441G>A