ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825815513
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_001129585.1:p.Thr392Met
CA211172
NM_001136113.2:c.1175C>T