ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825447137
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1377587
ClinVar RCV Id:
RCV001912282
RCV004041105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070834.1:p.Ser526Leu
CA5293808
NM_001077366.2:c.1577C>T