ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828319568
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
179682
ClinVar RCV Id:
RCV000156478
RCV001571850
RCV001826852
RCV002515021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.His242Arg
CA184923
NM_001369365.1:c.725A>G