ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825556935
Gene: GJB6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1043052
ClinVar RCV Id:
RCV001347103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001103689.1:p.Ile118Val
CA387468300
NM_001110219.3:c.352A>G