ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139670064
Gene: MYBPC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
925709
ClinVar RCV Id:
RCV001187797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Glu828Gln
CA078745
NM_000256.3:c.2482G>C