ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA241470
Gene: PEX13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195174
ClinVar RCV Id:
RCV000175727
RCV000879718
RCV003480075
RCV004552975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002609.1:p.Ser77Thr
CA241469
NM_002618.4:c.229T>A