ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580113229
Gene: MYOC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2442284
ClinVar RCV Id:
RCV003148613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000252.1:p.Asp378Gly
CA343724596
NM_000261.2:c.1133A>G