ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826954153
Gene: PEX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500963
ClinVar RCV Id:
RCV000596492
RCV001051856
RCV001834900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303242.1:p.Ala605Asp
CA3811137
NM_001316313.2:c.1814C>A