ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408702
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288721
ClinVar RCV Id:
RCV000301612
RCV000764729
RCV001855212
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Ala917Val
CA4341025
NM_000466.3:c.2750C>T