ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA177302
Gene: MYO1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
164588
ClinVar RCV Id:
RCV000151440
RCV000835611
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005370.1:p.Ile678Phe
CA177301
NM_005379.3:c.2032A>T