ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580112152
Gene: PEX7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2129590
ClinVar RCV Id:
RCV003050070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000279.1:p.Arg268Thr
CA365764498
NM_000288.4:c.803G>C