ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825788467
Gene: COCH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006993
RCV000214849
RCV001547940
ClinVar Variation:
6614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128530.1:p.Cys542Phe
CA253895
NM_001135058.2:c.1625G>T