ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916029222
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_001334649.1:p.Cys607Phe
CA253895
NM_001347720.2:c.1820G>T