ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825447384
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070834.1:p.Leu655Pro
CA5293942
NM_001077366.2:c.1964T>C