ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916019137
Gene: MVK
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001288111.1:p.Val8Leu
NM_001301182.1:c.22G>C
NM_001301182.1:c.22G>T