ClinGen Allele Registry
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Canonical Allele Identifier:
PA915981017
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
188830
ClinVar RCV:
RCV000171199
RCV000307060
RCV000365276
RCV000395526
RCV000675124
RCV000765014
RCV001831992
ClinVar Variation:
191024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Arg830His
CA235843
NM_001127180.2:c.2489G>A