ClinGen Allele Registry
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Canonical Allele Identifier:
PA136460
Gene: GJB6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000038707
RCV000945915
RCV001110055
RCV001762120
RCV004541116
ClinVar Variation:
45502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006774.2:p.Asn159Ser
CA136458
NM_006783.5:c.476A>G