ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828319691
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228997
ClinVar RCV Id:
RCV000223066
RCV000454150
RCV000675097
RCV002510821
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg362Cys
CA10577210
NM_001369365.1:c.1084C>T