ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499230337
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1011193
ClinVar RCV Id:
RCV001308955
RCV002437053
RCV002504471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000248.2:p.Leu1010Phe
CA035267
NM_000257.4:c.3028C>T