ClinGen Allele Registry
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Canonical Allele Identifier:
PA915980687
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
179682
ClinVar RCV Id:
RCV000156478
RCV001571850
RCV001826852
RCV002515021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.His253Arg
CA184923
NM_001127180.2:c.758A>G