ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA131458
Gene: MYBPC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42587
ClinVar RCV Id:
RCV000465226
RCV001177056
RCV002482957
RCV004017289
RCV004018745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Arg654Cys
CA011557
NM_000256.3:c.1960C>T