ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098898
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10433
ClinVar RCV Id:
RCV000011178
RCV000545060
RCV000789810
RCV002326673
RCV002274895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.Val139Met
CA340967
NM_000166.6:c.415G>A