ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825115494
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1982954
ClinVar RCV Id:
RCV002785681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Ser607Leu
CA6197623
NM_000260.4:c.1820C>T