ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825557038
Gene: GJB6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001347103
ClinVar Variation:
1043052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001103690.1:p.Ile118Val
CA387468300
NM_001110220.3:c.352A>G