ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827404370
Gene: COCH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6611
ClinVar RCV Id:
RCV000006990
RCV000211754
RCV000844626
RCV001093033
RCV001375055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334649.1:p.Pro116Ser
CA253889
NM_001347720.2:c.346C>T