ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645435861
Gene: MYBPC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
306751
ClinVar RCV Id:
RCV000288422
RCV001563107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001241647.1:p.Ser1166Phe
CA6745446
NM_001254718.1:c.3497C>T