ClinGen Allele Registry
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Canonical Allele Identifier:
PA916013790
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000395441
RCV000731262
RCV001277061
ClinVar Variation:
360930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Gln69Arg
CA10624396
NM_001282678.2:c.206A>G