ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254514
Gene: MYBPC3
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000247.2:p.Glu1096Ter
NM_000256.3:c.3286G>T