ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825445623
Gene: POMT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000003397
ClinVar Variation:
3241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070833.1:p.Leu399del
CA278045
NM_001077365.2:c.1194_1196del