ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499230461
Gene: MYOC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1013538
ClinVar RCV Id:
RCV001838657
RCV002246294
RCV002545045
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000252.1:p.Thr353Ile
CA1244086
NM_000261.2:c.1058C>T