ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825815170
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000591710
RCV000819538
RCV002532650
RCV003459474
ClinVar Variation:
502200
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129585.1:p.Pro66Leu
CA5293180
NM_001136113.2:c.197C>T