ClinGen Allele Registry
Allele Registry
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This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit
here
for the production version.
Canonical Allele Identifier:
PA2826930708
Gene: ERICH6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004293393
ClinVar Variation:
2513001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295163.1:p.Arg459Cys
CA2664937
NM_001308234.1:c.1375C>T