ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645482654
Gene: COCH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
313004
ClinVar RCV Id:
RCV000340373
RCV000506683
RCV000755239
RCV003950064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004077.1:p.Ile402Val
CA7143286
NM_004086.3:c.1204A>G