ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3087698382
Gene: MKKS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_740754.1:p.Leu277His
CA408232262
NM_170784.3:c.830T>A