ClinGen Allele Registry
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Canonical Allele Identifier:
PA915980894
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229000
ClinVar RCV Id:
RCV000222692
RCV000666700
RCV001112601
RCV001113932
RCV001112600
RCV001301731
RCV001833211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Arg649Trp
CA6197652
NM_001127180.2:c.1945C>T