ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825628213
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43335
ClinVar RCV Id:
RCV000036241
RCV000675126
RCV001275540
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Gly2147Asp
CA278713
NM_001127180.2:c.6440G>A