ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098843
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10438
ClinVar RCV Id:
RCV001245963
RCV001659691
RCV000011183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.Tyr65Cys
CA255248
NM_000166.6:c.194A>G