ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645501267
Gene: POMT2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_037514.2:p.Met144Arg
NM_013382.7:c.431T>G