ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320221
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
306176
ClinVar RCV Id:
RCV000280481
RCV000335541
RCV000374878
RCV001240935
RCV001833448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg793Gln
CA6197838
NM_001369365.1:c.2378G>A