ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA172214
Gene: GJB2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003995.2:p.Glu47Ter
NM_004004.6:c.139G>T