ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA220976
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000078919
RCV000672527
RCV001854392
RCV003474678
ClinVar Variation:
93104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Gln744Ter