ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253900
Gene: COCH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004077.1:p.Met512Thr
NM_004086.3:c.1535T>C