ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827404383
Gene: COCH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
882738
ClinVar RCV Id:
RCV001112669
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334649.1:p.Pro154His
CA7142986
NM_001347720.2:c.461C>A