ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826193040
Gene: PEX19
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001347007
ClinVar Variation:
1042968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180573.1:p.Leu258Val
CA1197237
NM_001193644.1:c.772C>G