ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580361325
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2150149
ClinVar RCV Id:
RCV003067424
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Thr683Asn
CA390513645
NM_013382.7:c.2048C>A