ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827183800
Gene: PMVK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309940.1:p.Val111Met
CA1132498
NM_001323011.3:c.331G>A