ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825120666
Gene: PEX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281738
ClinVar RCV Id:
RCV000307470
RCV001087319
RCV003955435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000310.2:p.Arg385Gln
CA6426380
NM_000319.5:c.1154G>A