ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253619
Gene: MYOT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006781.1:p.Ser55Phe
CA253617
NM_006790.3:c.164C>T