Canonical Allele Identifier: PA2827091412
Gene: MKS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308198.1:p.Val283Leu
CA292012776
NM_001321269.1:c.847G>C
CA400326353
NM_001321269.1:c.847G>T