ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098143
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429329
ClinVar RCV Id:
RCV000492924
RCV000789185
RCV000704995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.Lys103Glu
CA413501861
NM_000166.6:c.307A>G