ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645447612
Gene: MYOC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
293718
ClinVar RCV Id:
RCV000346645
RCV000396227
RCV003147445
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000252.1:p.Arg147Gln
CA1244277
NM_000261.2:c.440G>A