ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139668049
Gene: MYBPC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
915583
ClinVar RCV Id:
RCV001170430
RCV001859103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Val94Phe
CA051564
NM_000256.3:c.280G>T