ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645403086
Gene: PEX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281978
ClinVar RCV Id:
RCV000380106
RCV000946950
RCV004547662
RCV001576141
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000278.3:p.Glu391Lys
CA3811422
NM_000287.4:c.1171G>A