ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825183148
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002972510
ClinVar Variation:
2076821
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Leu501_Val504del
CA2580078173
NM_000466.3:c.1502_1513del