ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408657
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000325375
RCV001458350
RCV002518035
ClinVar Variation:
288355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Ser98Phe
CA4341643
NM_000466.3:c.293C>T