ClinGen Allele Registry
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Canonical Allele Identifier:
PA915980668
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178993
ClinVar RCV Id:
RCV000155771
RCV000225087
RCV000506187
RCV001254945
RCV001850134
RCV004528892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Ala230Val
CA278740
NM_001127180.2:c.689C>T