ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827596310
Gene: PEX5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
408744
ClinVar RCV:
RCV000480471
RCV001856846
ClinVar Variation:
420777
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338069.1:p.Ser555Leu
CA6426593
NM_001351140.1:c.1664C>T