ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA129015
Gene: PEX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30195
ClinVar RCV Id:
RCV000023114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000278.3:p.Leu534Pro
CA129014
NM_000287.4:c.1601T>C