ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825182777
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1494451
ClinVar RCV Id:
RCV002015009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Leu218Val
CA368200677
NM_000466.3:c.652C>G