ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828537078
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361620.1:p.Arg483Gln
CA5293829
NM_001374691.1:c.1448G>A