ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA132427
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43322
ClinVar RCV Id:
RCV000036227
RCV000263244
RCV000320711
RCV000379059
RCV000515066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Val2072Ile
CA132426
NM_000260.4:c.6214G>A