ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828321697
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
164724
ClinVar RCV Id:
RCV000151522
RCV000591925
RCV001089684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Thr2060Ile
CA278724
NM_001369365.1:c.6179C>T