ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA278704
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
52484
ClinVar RCV:
RCV000036219
ClinVar Variation:
43314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Asp2010Gly
CA278703
NM_000260.4:c.6029A>G