ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499262477
Gene: PEX19
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1042968
ClinVar RCV Id:
RCV001347007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002848.1:p.Leu258Val
CA1197237
NM_002857.4:c.772C>G