ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826954342
Gene: PEX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520796
ClinVar RCV Id:
RCV000624445
RCV001860423
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303242.1:p.Arg800Leu
CA364150541
NM_001316313.2:c.2399G>T