ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580111196
Gene: MYBPC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2193350
ClinVar RCV Id:
RCV002607943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Ala1105Val
CA380314041
NM_000256.3:c.3314C>T