ClinGen Allele Registry
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Canonical Allele Identifier:
PA296423
Gene: MYBPC3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000158334
RCV000988546
RCV001227943
RCV002453543
ClinVar Variation:
181062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Leu383Val
CA009817
NM_000256.3:c.1147C>G