ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573180402
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000036049
RCV000675070
RCV001315656
RCV001831627
ClinVar Variation:
43145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Arg467_His468insGln
CA278625
NM_001127180.2:c.1401_1403dup