ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA278671
Gene: MYO7A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000251.3:p.Glu1515_Met1517delinsAla
NM_000260.4:c.[4544_4547del;4549A>C;4550_...
NM_000260.4:c.[4544_4547del;4549A>G;4550_...
NM_000260.4:c.[4544_4547del;4549A>T;4550_...
NM_000260.4:c.[4544_4547del;4550_4551del]...
NM_000260.4:c.4544_4551delinsCA