ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826369557
Gene: MYO1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
45311
ClinVar RCV Id:
RCV000038475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001242970.1:p.Thr996Ile
CA136010
NM_001256041.2:c.2987C>T