ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA296231
Gene: MYBPC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180942
ClinVar RCV Id:
RCV000158099
RCV000618008
RCV001178349
RCV001850205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Glu516Lys
CA010618
NM_000256.3:c.1546G>A