ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826954023
Gene: PEX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224323
ClinVar RCV Id:
RCV001795343
RCV002500674
RCV000240689
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303242.1:p.Thr484Ile
CA10575897
NM_001316313.2:c.1451C>T