ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828321268
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229008
ClinVar RCV Id:
RCV000220543
RCV001566962
RCV004532761
RCV001828080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Ala1706Val
CA6198660
NM_001369365.1:c.5117C>T