ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825815613
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129585.1:p.Arg444Cys
CA5293658
NM_001136113.2:c.1330C>T