ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828319724
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
29926
ClinVar RCV Id:
RCV000022817
RCV001852003
RCV003317043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg384His
CA128772
NM_001369365.1:c.1151G>A