Canonical Allele Identifier: PA2827310622
Gene: MKS1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317326.1:p.Glu72Lys
CA8669602
NM_001330397.2:c.214G>A