ClinGen Allele Registry
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Canonical Allele Identifier:
PA658709789
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
486419
ClinVar RCV:
RCV000584993
RCV000591691
RCV000660395
RCV001083497
RCV001391319
RCV001578749
RCV003925755
ClinVar Variation:
493456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Thr527Ala
CA4341372
NM_000466.3:c.1579A>G