ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827713145
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2114941
ClinVar RCV Id:
RCV003043037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340122.2:p.His503Asn
CA375311995
NM_001353193.2:c.1507C>A