ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827716659
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
260143
ClinVar RCV Id:
RCV000246533
RCV000332912
RCV000687622
RCV000725940
RCV002518638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340128.2:p.Val481Ala
CA5293806
NM_001353199.2:c.1442T>C