ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828320416
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
177733
ClinVar RCV Id:
RCV000154343
RCV001222349
RCV002478450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Gly944Ser
CA278729
NM_001369365.1:c.2830G>A