ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828321758
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
402267
ClinVar RCV Id:
RCV000454276
RCV000520963
RCV003235215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Gly2114Ser
CA6199094
NM_001369365.1:c.6340G>A