ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092975
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3221
ClinVar RCV Id:
RCV000003376
RCV000003377
RCV000081569
RCV000193219
RCV000515301
RCV000648175
RCV003398429
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Tyr666Cys
CA116093
NM_013382.7:c.1997A>G