ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828321429
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43295
ClinVar RCV Id:
RCV000036200
RCV000669133
RCV001223334
RCV001291104
RCV001376326
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Pro1838Leu
CA278690
NM_001369365.1:c.5513C>T