ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA296441
Gene: MYBPC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181104
ClinVar RCV Id:
RCV000158407
RCV001850213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Gly1249_Cys1253del
CA014740
NM_000256.3:c.3744_3758del