ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825445946
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000246533
RCV000332912
RCV000687622
RCV000725940
RCV002518638
ClinVar Variation:
260143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070833.1:p.Val576Ala
CA5293806
NM_001077365.2:c.1727T>C