ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658654040
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229004
ClinVar RCV Id:
RCV000216662
RCV000488266
RCV001112846
RCV001112847
RCV001112848
RCV001276696
RCV001375364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Arg933His
CA6197936
NM_000260.4:c.2798G>A