ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828319527
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
29924
ClinVar RCV Id:
RCV000022815
RCV000215956
RCV000822163
RCV001275897
RCV002251923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Asp207Asn
CA259686
NM_001369365.1:c.619G>A