ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828320471
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
964396
ClinVar RCV Id:
RCV001238611
RCV001834068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg1008Gln
CA224841770
NM_001369365.1:c.3023G>A