ClinGen Allele Registry
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Canonical Allele Identifier:
PA915980722
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178478
ClinVar RCV Id:
RCV000155226
RCV001040160
RCV001111943
RCV001111942
RCV001111944
RCV002516123
RCV004534988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Ile376Val
CA182408
NM_001127180.2:c.1126A>G