ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645485792
Gene: PEX13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287094
ClinVar RCV Id:
RCV000493263
RCV001308586
RCV002285016
RCV002469099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002609.1:p.Arg294Trp
CA1673368
NM_002618.4:c.880C>T