ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827716172
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488581
ClinVar RCV Id:
RCV000578259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340127.2:p.Leu609Phe
CA5293879
NM_001353198.2:c.1825C>T