ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA180966
Gene: MYBPC3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Glu334Lys
CA009667
NM_000256.3:c.1000G>A