ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580147614
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1905172
ClinVar RCV Id:
RCV002592873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Leu509Phe
CA381935743
NM_001127180.2:c.1525C>T