ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825278205
Gene: GJB3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000155096
RCV000338988
RCV000711805
ClinVar Variation:
178352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005752.1:p.Tyr177Asp
CA182160
NM_001005752.2:c.529T>G