ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827715077
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340126.2:p.Pro12Leu
CA5293180
NM_001353197.2:c.35C>T