ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825116276
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2969424
ClinVar RCV Id:
RCV003827094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Thr1018Ile
CA224841764
NM_000260.4:c.3053C>T