ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320481
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178483
ClinVar RCV Id:
RCV000155231
RCV000288323
RCV000345669
RCV000388720
RCV000974265
RCV004534989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.His1018Arg
CA182416
NM_001369365.1:c.3053A>G