ClinGen Allele Registry
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Canonical Allele Identifier:
PA247270
Gene: POMT2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Thr297Ile
CA247268
NM_013382.7:c.890C>T