ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825116312
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2180935
ClinVar RCV Id:
RCV002619513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Glu1032Lys
CA381944328
NM_000260.4:c.3094G>A