ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573165336
Gene: PEX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1387546
ClinVar RCV Id:
RCV001908172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000278.3:p.Val930Phe
CA3810909
NM_000287.4:c.2788G>T