ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253892
Gene: COCH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006991
RCV001532242
ClinVar Variation:
6612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004077.1:p.Ile109Asn
CA253891
NM_004086.3:c.326T>A