ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320622
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196099
ClinVar RCV Id:
RCV000665185
RCV000724054
RCV000988610
RCV001073919
RCV001171544
RCV002500491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Ser1165Asn
CA242907
NM_001369365.1:c.3494G>A