ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499238357
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1028643
ClinVar RCV Id:
RCV001329737
RCV002546349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Arg616Gln
CA6197626
NM_001127180.2:c.1847G>A