ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580282864
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2302594
ClinVar RCV Id:
RCV002886908
RCV003329469
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Lys103Met
CA246460392
NM_004004.6:c.308A>T