ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825120130
Gene: PEX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2080143
ClinVar RCV Id:
RCV002999067
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000309.2:p.Ala201Thr
CA4788682
NM_000318.3:c.601G>A