Canonical Allele Identifier: PA097176
Gene: GJA1 HGNC NCBI
ClinVar RCV:
RCV000502204
ClinVar Variation:
435325
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000156.1:p.Val216Leu
CA365559479
NM_000165.5:c.646G>C
CA365559480
NM_000165.5:c.646G>T