ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825816833
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448111
ClinVar RCV Id:
RCV000516425
RCV001369456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129586.1:p.Ala378Val
CA5293711
NM_001136114.2:c.1133C>T