ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826665696
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000667585
ClinVar Variation:
552345
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Pro472_Val475del
CA658823121
NM_001282678.2:c.1415_1426del