ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830511529
Gene: MYBPC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996557.1:p.Gly179Ala
CA386279231
NM_206821.3:c.536G>C