ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139670851
Gene: MYBPC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
854702
ClinVar RCV Id:
RCV001059801
RCV001799729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Ser1182Thr
CA380312630
NM_000256.3:c.3545G>C