Canonical Allele Identifier: PA2825077941
Gene: GJB1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Val181Leu
CA16616539
NM_000166.6:c.541G>T
CA413503072
NM_000166.6:c.541G>C