ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916029207
Gene: COCH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226529
ClinVar RCV Id:
RCV000215337
RCV000387678
RCV000755937
RCV000787992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334649.1:p.Asp346Asn
CA7143202
NM_001347720.2:c.1036G>A