ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320148
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43176
ClinVar RCV Id:
RCV000036080
RCV000666826
RCV001112680
RCV001112681
RCV001112682
RCV001276686
RCV001852742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg729Trp
CA132237
NM_001369365.1:c.2185C>T