ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827713065
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39435
ClinVar RCV Id:
RCV000032630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340122.2:p.Thr414Met
CA211172
NM_001353193.2:c.1241C>T