ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916029213
Gene: COCH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000225026
ClinVar Variation:
236036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334649.1:p.Leu452Phe
CA10581510
NM_001347720.2:c.1354C>T