ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825816174
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471382
ClinVar RCV Id:
RCV000527153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129586.1:p.His13Pro
CA5293245
NM_001136114.2:c.38A>C