ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320422
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43193
ClinVar RCV Id:
RCV000036097
RCV000263497
RCV000316472
RCV000354842
RCV001041392
RCV001831632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Gly950Asp
CA132268
NM_001369365.1:c.2849G>A