ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826665521
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001982493
ClinVar Variation:
1444588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Ser298Pro
CA4341380
NM_001282678.2:c.892T>C