ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828320999
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43243
ClinVar RCV Id:
RCV000036147
RCV001826548
RCV001241478
RCV004018786
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Val1480Met
CA132328
NM_001369365.1:c.4438G>A