ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741892129
Gene: PEX13
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002609.1:p.Ala295Ser
CA1673370
NM_002618.4:c.883G>T