ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827715036
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2153859
ClinVar RCV Id:
RCV003077828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340125.1:p.Leu667Phe
CA375315208
NM_001353196.2:c.1999C>T