Canonical Allele Identifier: PA2499249678
Gene: MKS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317326.1:p.Gly438Arg
CA8669092
NM_001330397.2:c.1312G>A
CA400324502
NM_001330397.2:c.1312G>C