ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915980692
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178477
ClinVar RCV Id:
RCV000155225
RCV001112309
RCV000724234
RCV001112308
RCV001112307
RCV004534987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Lys268Arg
CA182406
NM_001127180.2:c.803A>G