Canonical Allele Identifier: PA098220
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406224
ClinVar RCV Id: RCV000467465 RCV000789955 RCV003401459
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Met34Thr
CA16616534
NM_000166.6:c.101T>C