ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828321648
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43321
ClinVar RCV Id:
RCV000036226
RCV001038973
RCV001831644
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg2021Gln
CA132424
NM_001369365.1:c.6062G>A