Canonical Allele Identifier: PA916029210
Gene: COCH HGNC NCBI

Linked Data

ClinVar Variation Id: 226525
ClinVar RCV Id: RCV000221727 RCV000616871 RCV001582722 RCV002054369
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001334649.1:p.Thr417Ser
CA7143257
NM_001347720.2:c.1250C>G
CA389348169
NM_001347720.2:c.1249A>T