ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA203094
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197795
ClinVar RCV Id:
RCV000178927
RCV000335274
RCV000553857
RCV001081717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Asp218Asn
CA203092
NM_013382.7:c.652G>A