ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829515154
Gene: COCH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1305492
ClinVar RCV Id:
RCV001768699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004077.1:p.Arg416His
CA258541191
NM_004086.3:c.1247G>A