ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829515156
Gene: COCH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2034858
ClinVar RCV Id:
RCV002889746
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004077.1:p.Thr417Lys
CA389348608
NM_004086.3:c.1250C>A