ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742036871
Gene: MYBPC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996555.1:p.Gly48Val
CA6744414
NM_206819.3:c.143G>T