ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828535543
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502200
ClinVar RCV Id:
RCV000591710
RCV000819538
RCV003459474
RCV002532650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361618.1:p.Pro12Leu
CA5293180
NM_001374689.1:c.35C>T