ClinGen Allele Registry
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Canonical Allele Identifier:
PA915981328
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
177723
ClinVar RCV Id:
RCV000154330
RCV001850112
RCV001826829
RCV003479023
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Glu1327Lys
CA180657
NM_001127180.2:c.3979G>A