ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063897515
Gene: PEX14
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004556.1:p.Gln185Lys
CA338334198
NM_004565.3:c.553C>A