ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408718
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000282489
RCV001770284
RCV002523603
RCV002523604
ClinVar Variation:
360913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Thr1189Ile
CA4340796
NM_000466.3:c.3566C>T