ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA223093
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95544
ClinVar RCV Id:
RCV000081576
RCV002513833
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Leu187Phe
CA223091
NM_013382.7:c.559C>T