ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827716689
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340128.2:p.Arg505Gln
CA5293829
NM_001353199.2:c.1514G>A