ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828537704
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290628
ClinVar RCV Id:
RCV000400952
RCV001208245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361622.1:p.Asp29Asn
CA5293203
NM_001374693.1:c.85G>A