ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828375561
Gene: GJB6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000487477
RCV001856883
RCV002265780
ClinVar Variation:
424855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357019.1:p.Ala40Val
CA6904506
NM_001370090.1:c.119C>T