ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825114959
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_000251.3:p.Arg373Cys
CA10577210
NM_000260.4:c.1117C>T