ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828537553
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1377587
ClinVar RCV Id:
RCV001912282
RCV004041105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361621.1:p.Ser463Leu
CA5293808
NM_001374692.1:c.1388C>T