ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828536195
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361619.1:p.Arg105His
CA5293229
NM_001374690.1:c.314G>A