ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827714552
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39434
ClinVar RCV Id:
RCV000032629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340125.1:p.Asn114Asp
CA211169
NM_001353196.2:c.340A>G