ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827717114
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340129.1:p.Ala381Val
CA5293760
NM_001353200.2:c.1142C>T