ClinGen Allele Registry
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Canonical Allele Identifier:
PA3081559866
Gene: POMT2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Cys83Tyr
CA390504236
NM_013382.7:c.248G>A