ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580113101
Gene: MYOC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1723161
ClinVar RCV Id:
RCV002306261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000252.1:p.Ser173Thr
CA343718087
NM_000261.2:c.518G>C