ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA296245
Gene: MYBPC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180950
ClinVar RCV Id:
RCV000158117
RCV000853169
RCV002516378
RCV002408712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Thr602Ile
CA011188
NM_000256.3:c.1805C>T