ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828320091
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1214480
ClinVar RCV Id:
RCV001583570
RCV001836460
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Ala684Gly
CA381939552
NM_001369365.1:c.2051C>G