ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099538
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000454276
RCV000520963
RCV003235215
ClinVar Variation:
402267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Gly2163Ser
CA6199094
NM_000260.4:c.6487G>A