ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA134972
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
44748
ClinVar RCV Id:
RCV000037850
RCV000988960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Ser138Gly
CA134971
NM_004004.6:c.412A>G