ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828536867
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361620.1:p.Thr275Met
CA211172
NM_001374691.1:c.824C>T