ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827715405
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340126.2:p.Val421Ile
CA200794964
NM_001353197.2:c.1261G>A