ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804568
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
504644
ClinVar RCV Id:
RCV000604529
RCV001075326
RCV001274691
RCV000730421
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Ile205Thr
CA6197202
NM_000260.4:c.614T>C