ClinGen Allele Registry
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Canonical Allele Identifier:
PA915981352
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
306185
ClinVar RCV Id:
RCV000277269
RCV000330024
RCV000369577
RCV001859830
RCV002487363
RCV003317189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Arg1347Cys
CA6198300
NM_001127180.2:c.4039C>T