ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828319444
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43230
ClinVar RCV Id:
RCV000036134
RCV000673536
RCV001074683
RCV001231996
RCV001775073
RCV004528177
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Ile123Asn
CA278663
NM_001369365.1:c.368T>A