ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320264
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191024
ClinVar RCV Id:
RCV000171199
RCV000365276
RCV000395526
RCV000765014
RCV000307060
RCV000675124
RCV001831992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg819His
CA235843
NM_001369365.1:c.2456G>A