ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825788430
Gene: COCH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128530.1:p.Leu387Phe
CA10581510
NM_001135058.2:c.1159C>T