ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827715428
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_001340126.2:p.His449Asn
CA375311995
NM_001353197.2:c.1345C>A