ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573187794
Gene: PEX19
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002032879
ClinVar Variation:
1346893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180573.1:p.Val279Ile
CA343255060
NM_001193644.1:c.835G>A