ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408711
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289972
ClinVar RCV Id:
RCV000332762
RCV001240865
RCV002480047
RCV004021294
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Glu1015Ala
CA4340908
NM_000466.3:c.3044A>C