Canonical Allele Identifier: PA1139697463
Gene: MKS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Val80Leu
CA292012776
NM_001321268.1:c.238G>C
CA400326353
NM_001321268.1:c.238G>T