ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139679890
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
883481
ClinVar RCV Id:
RCV001113933
RCV001113934
RCV001113935
RCV001856501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Arg657Gln
CA6197656
NM_001127180.2:c.1970G>A