ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828319509
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
551019
ClinVar RCV Id:
RCV000665969
RCV001855449
RCV003989576
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg195Cys
CA6197203
NM_001369365.1:c.583C>T