ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826665951
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224325
ClinVar RCV Id:
RCV000240787
RCV001004317
RCV002229187
RCV002251446
RCV002515571
RCV003226251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Ile781Thr
CA4340947
NM_001282678.2:c.2342T>C