ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139700991
Gene: COCH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
883529
ClinVar RCV Id:
RCV001114022
RCV001856502
RCV002558135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004077.1:p.Arg98Gln
CA7142994
NM_004086.3:c.293G>A