ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826665698
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1395714
ClinVar RCV Id:
RCV001887241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Ala474Thr
CA368182993
NM_001282678.2:c.1420G>A