ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825115722
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1347300
ClinVar RCV Id:
RCV002033077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Pro694Thr
CA381939534
NM_000260.4:c.2080C>A