ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320604
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43206
ClinVar RCV Id:
RCV000036110
RCV000312187
RCV000664879
RCV001073977
RCV001270103
RCV001272512
RCV002496550
RCV004541086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Gly1148Val
CA132291
NM_001369365.1:c.3443G>T