ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826665712
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000117900
RCV000288096
RCV000992519
RCV001513794
ClinVar Variation:
129882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Ile488Met
CA154229
NM_001282678.2:c.1464A>G