ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828538606
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_001361624.1:p.Leu511Phe
CA5293879
NM_001374695.1:c.1531C>T