ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827716002
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1013680
ClinVar RCV Id:
RCV001312304
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340127.2:p.Pro430Ser
CA375311777
NM_001353198.2:c.1288C>T