ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA223082
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95541
ClinVar RCV Id:
RCV000303743
RCV000765180
RCV000712838
RCV001084326
RCV001705757
RCV003952518
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Glu78Gln
CA223080
NM_013382.7:c.232G>C