ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096768
Gene: MYBPC3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Arg495Gln
CA010464
NM_000256.3:c.1484G>A