ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825114668
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1408398
ClinVar RCV Id:
RCV001909947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Ala192Gly
CA381931964
NM_000260.4:c.575C>G