ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827717035
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1013680
ClinVar RCV Id:
RCV001312304
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340129.1:p.Pro310Ser
CA375311777
NM_001353200.2:c.928C>T