ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828319418
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43214
ClinVar RCV Id:
RCV000036118
RCV001196537
RCV001275889
RCV001785454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg109His
CA132297
NM_001369365.1:c.326G>A