ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573233188
Gene: GJB2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002013660
ClinVar Variation:
1507837
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Gly59Val
CA387461699
NM_004004.6:c.176G>T