ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826953978
Gene: PEX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30195
ClinVar RCV Id:
RCV000023114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303242.1:p.Leu446Pro
CA129014
NM_001316313.2:c.1337T>C