ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253622
Gene: MYOT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5836
ClinVar RCV Id:
RCV000006193
RCV000239643
RCV000725007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006781.1:p.Ser60Cys
CA253620
NM_006790.3:c.179C>G