ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829694478
Gene: POMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009102.4:p.Ala196Thr
CA5293329
NM_007171.4:c.586G>A