ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA345750
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143216
ClinVar RCV Id:
RCV000132756
RCV000819391
RCV003133146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000248.2:p.Glu1669del
CA015545
NM_000257.4:c.5005_5007del