ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828319342
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
306153
ClinVar RCV Id:
RCV000298034
RCV000355269
RCV000395630
RCV001059240
RCV001833445
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Thr43Ala
CA6197062
NM_001369365.1:c.127A>G