ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828375750
Gene: GJB6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000520394
RCV001857991
ClinVar Variation:
450929
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357020.1:p.Ser261Gly
CA6904363
NM_001370091.1:c.781A>G