ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139678025
Gene: MYOC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
875033
ClinVar RCV Id:
RCV001098516
RCV001098517
RCV003319992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000252.1:p.Val449Ile
CA1244035
NM_000261.2:c.1345G>A