ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580422100
Gene: P3H2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1719103
ClinVar RCV Id:
RCV002301863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060662.2:p.Arg192Thr
CA355759807
NM_018192.4:c.575G>C