ClinGen Allele Registry
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Canonical Allele Identifier:
PA172227
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17006
ClinVar RCV Id:
RCV000018530
RCV000146018
RCV000211776
RCV000678881
RCV001257563
RCV000520132
RCV002496401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Glu120del
CA172226
NM_004004.6:c.358_360del