ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320682
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
306183
ClinVar RCV Id:
RCV000270717
RCV000329095
RCV000381527
RCV002056247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Pro1210Arg
CA6198162
NM_001369365.1:c.3629C>G