ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499230743
Gene: PEX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1037754
ClinVar RCV Id:
RCV001340950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000278.3:p.Leu453Phe
CA364155569
NM_000287.4:c.1357C>T