ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828538416
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361624.1:p.Arg314Cys
CA5293658
NM_001374695.1:c.940C>T