ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827716571
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1500135
ClinVar RCV Id:
RCV002042509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340128.2:p.Glu395Ala
CA375312101
NM_001353199.2:c.1184A>C