ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139670595
Gene: MYBPC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
927199
ClinVar RCV Id:
RCV001190317
RCV003748334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Asp1071Val
CA380314473
NM_000256.3:c.3212A>T