ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916029214
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_001334649.1:p.Ile467Val
CA7143286
NM_001347720.2:c.1399A>G