ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828319987
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43160
ClinVar RCV Id:
RCV000036064
RCV000665882
RCV001060312
RCV001826541
RCV002490492
RCV004534753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg605Trp
CA132223
NM_001369365.1:c.1813C>T