ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825446186
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289094
ClinVar RCV Id:
RCV000271428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070833.1:p.Lys715Gln
CA10606325
NM_001077365.2:c.2143A>C