ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139693839
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000078926
ClinVar Variation:
93110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269606.1:p.Pro951del
CA220980
NM_001282677.2:c.2851_2853del