ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827090417
Gene: MKS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308197.1:p.Asp202Asn
CA8669230
NM_001321268.1:c.604G>A