ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139722639
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289043
ClinVar RCV Id:
RCV000268753
RCV002518064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009102.4:p.Asp399Asn
CA10606306
NM_007171.4:c.1195G>A