ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828319963
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
306170
ClinVar RCV Id:
RCV000259771
RCV000299486
RCV000354619
RCV000825399
RCV001056085
RCV001276679
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Ala590Thr
CA6197616
NM_001369365.1:c.1768G>A