ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825628172
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
402267
ClinVar RCV Id:
RCV000454276
RCV000520963
RCV003235215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Gly2123Ser
CA6199094
NM_001127180.2:c.6367G>A