ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645426867
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291005
ClinVar RCV Id:
RCV000726586
RCV001109571
RCV001109572
RCV001109573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Ala226Thr
CA6197213
NM_000260.4:c.676G>A