ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915981449
Gene: MYO7A
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001120652.1:p.Glu1515_Met1517delinsAla
NM_001127180.2:c.[4544_4547del;4549A>C;45...
NM_001127180.2:c.[4544_4547del;4549A>G;45...
NM_001127180.2:c.[4544_4547del;4549A>T;45...
NM_001127180.2:c.[4544_4547del;4550_4551d...
NM_001127180.2:c.4544_4551delinsCA