ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825077109
Gene: GJB1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000789195
ClinVar Variation:
637147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.Val63Phe
CA413501347
NM_000166.6:c.187G>T