ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827714008
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285812
ClinVar RCV Id:
RCV000712827
RCV000540929
RCV002519193
RCV004543069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340124.1:p.Ala79Thr
CA5293329
NM_001353195.2:c.235G>A