ClinGen Allele Registry
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Canonical Allele Identifier:
PA915981372
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224749
ClinVar RCV Id:
RCV000210299
RCV000225646
RCV001171542
RCV002515581
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Val1372Gly
CA353603
NM_001127180.2:c.4115T>G