ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658831297
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
550716
ClinVar RCV Id:
RCV000665536
RCV003660822
RCV003991034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Met1Leu