ClinGen Allele Registry
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Canonical Allele Identifier:
PA915981309
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178283
ClinVar RCV Id:
RCV000155024
RCV000675121
RCV001171535
RCV001850120
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Ser1276Leu
CA278732
NM_001127180.2:c.3827C>T