ClinGen Allele Registry
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Canonical Allele Identifier:
PA915980629
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000312582
RCV000352175
RCV000406232
RCV000606419
RCV001245525
RCV001833446
ClinVar Variation:
306161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Gln188Glu
CA6197170
NM_001127180.2:c.562C>G