ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826665655
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003088915
ClinVar Variation:
2171658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Ser441Leu
CA368183888
NM_001282678.2:c.1322C>T