ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645478044
Gene: PEX12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287347
ClinVar RCV Id:
RCV000287024
RCV001083308
RCV004549596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000277.1:p.Gly241Val
CA8504854
NM_000286.3:c.722G>T