ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499250297
Gene: PMVK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335625.1:p.Val50Met
CA1132498
NM_001348696.2:c.148G>A