ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA136011
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_005370.1:p.Thr996Ile
CA136010
NM_005379.3:c.2987C>T