ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099454
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43208
ClinVar RCV Id:
RCV000036112
RCV000664470
RCV000763278
RCV001075104
RCV000988609
RCV001291476
RCV001385688
RCV001826545
RCV004541087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Glu1170Lys
CA278649
NM_000260.4:c.3508G>A