ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825557144
Gene: GJB6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
672304
ClinVar RCV Id:
RCV000831549
RCV001110823
RCV001523486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001103691.1:p.Asp120Asn
CA6904454
NM_001110221.3:c.358G>A