ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828536623
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
581594
ClinVar RCV Id:
RCV000705471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361619.1:p.Leu624His
CA5293936
NM_001374690.1:c.1871T>A