ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA255234
Gene: GJB1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001091111.1:p.Pro172Ser
NM_001097642.3:c.514C>T