ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA340467
Gene: MYOT
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006781.1:p.Thr57Ile
NM_006790.3:c.170C>T