ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828319769
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228999
ClinVar RCV Id:
RCV000218429
RCV000358625
RCV000303792
RCV000405741
RCV000725835
RCV001274698
RCV004020628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg419Cys
CA6197444
NM_001369365.1:c.1255C>T