ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828536479
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361619.1:p.Ala460Val
CA5293760
NM_001374690.1:c.1379C>T