ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098662
Gene: GJB1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
25485
ClinVar RCV:
RCV000011191
RCV000486043
RCV000789872
RCV001851787
ClinVar Variation:
10446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.Thr55Ile
CA340973
NM_000166.6:c.164C>T