ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828375650
Gene: GJB6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000088666
ClinVar Variation:
5543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357020.1:p.Thr5Met
CA267609
NM_001370091.1:c.14C>T