Canonical Allele Identifier: PA2827310639
Gene: MKS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317326.1:p.Trp80Cys
CA400327736
NM_001330397.2:c.240G>T
CA400327737
NM_001330397.2:c.240G>C