ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827090415
Gene: MKS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217672
ClinVar RCV Id:
RCV000201754
RCV000479872
RCV000984285
RCV000984284
RCV000984286
RCV001853235
RCV003230449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308197.1:p.Ser200Leu
CA210326
NM_001321268.1:c.599C>T