Canonical Allele Identifier: PA645509988
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 438620
ClinVar RCV Id: RCV000505521 RCV000731139 RCV003387862
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met195Thr
CA387460849
NM_004004.6:c.584T>C