ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826665946
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2102972
ClinVar RCV Id:
RCV003019793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Ser776Asn
CA368167691
NM_001282678.2:c.2327G>A