ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742011400
Gene: ERICH6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004293393
ClinVar Variation:
2513001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689607.2:p.Arg605Cys
CA2664937
NM_152394.5:c.1813C>T