ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139675741
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001160556
ClinVar Variation:
909480
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Ser649Ala
CA368183903
NM_000466.3:c.1945T>G