ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA132331
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43244
ClinVar RCV Id:
RCV000036149
RCV000765012
RCV001109455
RCV001109456
RCV001109457
RCV001275891
RCV001241133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Arg150Gln
CA132330
NM_000260.4:c.449G>A