ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA132236
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43173
ClinVar RCV Id:
RCV000036077
RCV000665188
RCV001288311
RCV001578680
RCV001578681
RCV001526753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Met708Val
CA132235
NM_000260.4:c.2122A>G