ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580113240
Gene: MYOC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2089889
ClinVar RCV Id:
RCV003005717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000252.1:p.Ile401Leu
CA343724330
NM_000261.2:c.1201A>C