ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139723100
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009102.4:p.Ala555Val
CA5293760
NM_007171.4:c.1664C>T