ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827183815
Gene: PMVK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309941.1:p.Val50Met
CA1132498
NM_001323012.3:c.148G>A