Canonical Allele Identifier: PA2580522723
Gene: TMC8 HGNC NCBI
ClinVar RCV:
RCV002585994
ClinVar Variation:
1900907
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689681.2:p.Leu126Phe
CA401241829
NM_152468.5:c.376C>T