ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827715582
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340126.2:p.Leu609Phe
CA5293879
NM_001353197.2:c.1825C>T