ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827716736
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1985022
ClinVar RCV Id:
RCV002775799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340128.2:p.Gln577Arg
CA375314926
NM_001353199.2:c.1730A>G