ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828321251
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43278
ClinVar RCV Id:
RCV000036183
RCV000286019
RCV000391447
RCV000723623
RCV000988615
RCV001272808
RCV004534758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg1694Trp
CA132381
NM_001369365.1:c.5080C>T