ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828321660
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
550490
ClinVar RCV Id:
RCV001810468
RCV002507154
RCV001043905
RCV001275533
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg2030Trp
CA6198956
NM_001369365.1:c.6088C>T