ClinGen Allele Registry
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Canonical Allele Identifier:
PA645427519
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229008
ClinVar RCV Id:
RCV000220543
RCV001566962
RCV004532761
RCV001828080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Ala1755Val
CA6198660
NM_000260.4:c.5264C>T