ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827716713
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340128.2:p.Leu546Phe
CA5293879
NM_001353199.2:c.1636C>T