ClinGen Allele Registry
Allele Registry
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This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit
here
for the production version.
Canonical Allele Identifier:
PA296807
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000158780
RCV001192690
ClinVar Variation:
181334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000248.2:p.Tyr350His
CA010100
NM_000257.4:c.1048T>C