ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658831304
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
556318
ClinVar RCV Id:
RCV000672312
RCV002298731
RCV002493110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Ile30Val
CA6904323
NM_004004.6:c.88A>G