ClinGen Allele Registry
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Canonical Allele Identifier:
PA658827672
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
558557
ClinVar RCV Id:
RCV000674849
RCV001547725
RCV001829885
RCV003152726
RCV003323677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Arg675Cys
CA6197668
NM_000260.4:c.2023C>T