ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825459890
Gene: PEX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2176172
ClinVar RCV Id:
RCV002602546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073336.2:p.Asn192Ser
CA371557042
NM_001079867.2:c.575A>G