ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827716245
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1998907
ClinVar RCV Id:
RCV002815007
ClinVar Variation Id:
2678012
ClinVar RCV Id:
RCV003472489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340127.2:p.Trp682Ter
CA1139532753
NM_001353198.2:c.2046del