ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580113108
Gene: MYOC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1703213
ClinVar RCV Id:
RCV002280336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000252.1:p.Leu180Gln
CA343717998
NM_000261.2:c.539T>A