ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826664952
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360923
ClinVar RCV Id:
RCV000264448
RCV001770285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269606.1:p.Thr746Ile
CA4341137
NM_001282677.2:c.2237C>T