ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3075625919
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009102.4:p.Arg514Gly
CA5293705
NM_007171.4:c.1540C>G