ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804605
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
504648
ClinVar RCV Id:
RCV000602682
RCV001834919
RCV002532729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Glu1579Lys
CA6198533
NM_000260.4:c.4735G>A