ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913196177
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009102.3:p.Leu483Phe
CA5293684
NM_007171.3:c.1447C>T